Advertisement

Genomic Applications in Soft Tissue Sarcomas

  • Eva WardelmannEmail author
  • Wolfgang HartmannEmail author
Chapter

Abstract

Sarcomas account for only 1% of all malignant tumors, but they comprise more than 70 different subtypes. The growing knowledge on genomic alterations in soft tissue tumors allows for a molecular refinement of the morphology-based diagnostic subclassification and renders useful prognostic and/or predictive information for an increasing number of diseases.

This chapter presents an overview of the genomic applications that play an increasingly important role in the diagnostic algorithms and treatment decisions in soft tissue sarcomas. It focuses on soft tissue tumors with intermediate and malignant biological potential which are characterized by specific genetic alterations while almost completely excluding the large group of benign soft tissue tumors and those for which characteristic alterations have not been found, including the majority of pleomorphic sarcomas.

Keywords

Mesenchymal tumors Soft tissue sarcoma Adipocytic tumors Fibroblastic tumors Skeletal muscle tumors Vascular tumors Gastrointestinal stromal tumor Chromosomal translocation Complex karyotype Molecular-targeted therapy 

References

  1. 1.
    Agaimy A, Wünsch P, Hofstaedter F, Blaszyk H, Rümmele P, Gaumann A, Dietmaier W, Hartmann A. Minute gastric sclerosing stromal tumors (GIST tumorlets) are common in adults and frequently show c-KIT mutations. Am J Surg Pathol. 2007;31:113–20.CrossRefPubMedGoogle Scholar
  2. 2.
    Agaram N, Wong G, Guo T, Maki R, Singer S, Dematteo R, Besmer P, Antonescu C. Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors. Genes Chromosomes Cancer. 2008;47:853–9.CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Agaram NP, Chen CL, Zhang L, LaQuaglia MP, Wexler L, Antonescu CR. Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis. Genes Chromosomes Cancer. 2014 Sep;53(9):779–87.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Agaram NP, Zhang L, Sung YS, Singer S, Antonescu CR. Extraskeletal myxoid chondrosarcoma with non-EWSR1-NR4A3 variant fusions correlate with rhabdoid phenotype and high-grade morphology. Hum Pathol. 2014 May;45(5):1084–91.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Antonescu C, Nafa K, Segal N, Dal Cin P, Ladanyi M. EWS-CREB1: a recurrent variant fusion in clear cell sarcoma – association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res. 2006;12:5356–62.CrossRefGoogle Scholar
  6. 6.
    Antonescu C, Sommer G, Sarran L, Tschernyavsky S, Riedel E, Woodruff J, Robson M, Maki R, Brennan M, Ladanyi M, et al. Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. Clin Cancer Res. 2003;9:3329–37.PubMedGoogle Scholar
  7. 7.
    Antonescu CR, Elahi A, Healey JH, Brennan MF, Lui MY, Lewis J, Jhanwar SC, Woodruff JM, Ladanyi M. Monoclonality of multifocal myxoid liposarcoma: confirmation by analysis of TLS-CHOP or EWS-CHOP rearrangements. Clin Cancer Res. 2000;6:2788–93.PubMedGoogle Scholar
  8. 8.
    Antonescu CR, Le Loarer F, Mosquera JM, Sboner A, Zhang L, Chen CL, Chen HW, Pathan N, Krausz T, Dickson BC, et al. Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma. Genes Chromosomes Cancer. 2013;52:775–84.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Antonescu CR, Tschernyavsky SJ, Decuseara R, Leung DH, Woodruff JM, Brennan MF, Bridge JA, Neff JR, Goldblum JR, Ladanyi M. Prognostic impact of P53 status, TLS-CHOP fusion transcript structure, and histological grade in myxoid liposarcoma: a molecular and clinicopathologic study of 82 cases. Clin Cancer Res. 2001;7:3977–87.PubMedGoogle Scholar
  10. 10.
    Antonescu CR, Suurmeijer AJ, Zhang L, Sung YS, Jungbluth AA, Travis WD, Al-Ahmadie H, Fletcher CD, Alaggio R. Molecular characterization of inflammatory myofibroblastic tumors with frequent ALK and ROS1 gene fusions and rare novel RET rearrangement. Am J Surg Pathol. 2015;39(7):957–67.CrossRefPubMedPubMedCentralGoogle Scholar
  11. 11.
    Azumi N, Curtis J, Kempson RL, Hendrickson MR. Atypical and malignant neoplasms showing lipomatous differentiation. A study of 111 cases. Am J Surg Pathol. 1987;11:161–83.CrossRefGoogle Scholar
  12. 12.
    Barr FG. Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma. Oncogene. 2001;20:5736–46.CrossRefGoogle Scholar
  13. 13.
    Barretina J, Taylor BS, Banerji S, Ramos AH, Lagos-Quintana M, Decarolis PL, Shah K, Socci ND, Weir BA, Ho A, et al. Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy. Nat Genet. 2010;42:715–21.CrossRefPubMedPubMedCentralGoogle Scholar
  14. 14.
    Barthelmeß S, Geddert H, Boltze C, Moskalev EA, Bieg M, Sirbu H, Brors B, Wiemann S, Hartmann A, Agaimy A, Haller F. Solitary fibrous tumors/hemangiopericytomas with different variants of the NAB2-STAT6 gene fusion are characterized by specific histomorphology and distinct clinicopathological features. Am J Pathol. 2014;184(4):1209–18.CrossRefGoogle Scholar
  15. 15.
    Benesch M, Wardelmann E, Ferrari A, Brennan B, Verschuur A. Gastrointestinal stromal tumors (GIST) in children and adolescents: a comprehensive review of the current literature. Pediatr Blood Cancer. 2009;53:1171–9.CrossRefGoogle Scholar
  16. 16.
    Bertoni F, Unni KK, Beabout JW, Sim FH. Malignant giant cell tumor of the tendon sheaths and joints (malignant pigmented villonodular synovitis). Am J Surg Pathol. 1997;21:153–63.CrossRefGoogle Scholar
  17. 17.
    Betires-Alj M, Guillermo Paez J, David F, Keilhack H, Halmos B, Naoki K, Maris J, Richardson A, Bardelli A, Sugarbaker D, et al. Activating mutations of the Noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res. 2004;64:8816–20.CrossRefGoogle Scholar
  18. 18.
    Blay JY, Bonvalot S, Boukovinas I, Casali PG, De Alava E, Dei Tos AP, Dirksen U, Duffaud F, Eriksson M, Fedenko A, Ferrari A, Ferrari S, del Muro XG, Gelderblom H, Grimer R, Gronchi A, Hall KS, Hassan B, Hogendoorn P, Hohenberger P, Issels R, Joensuu H, Jost L, Jurgens H, Kager L, Le Cesne A, Leyvraz S, Martin J, Merimsky O, Nishida T, Picci P, Reichardt P, Rutkowski P, Schlemmer M, Sleijfer S, Stacchiotti S, Taminiau A, Wardelmann E. Gastrointestinal stromal tumors: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. ESMO/European Sarcoma Network Working Group. Ann Oncol. 2012;23:Vii49–55.CrossRefGoogle Scholar
  19. 19.
    Blay JY, El Sayadi H, Thiesse P, Garret J, Ray-Coquard I. Complete response to imatinib in relapsing pigmented villonodular synovitis/tenosynovial giant cell tumor (PVNS/TGCT). Ann Oncol. 2008;19:821–2.CrossRefGoogle Scholar
  20. 20.
    Bourdeaut F, Freneaux P, Thuille B, Bergeron C, Laurence V, Brugieres L, Verite C, Michon J, Delattre O, Orbach D. Extra-renal non-cerebral rhabdoid tumours. Pediatr Blood Cancer. 2008;51:363–8.CrossRefPubMedGoogle Scholar
  21. 21.
    Butrynski J, D’Adamo D, Hornick J, Dal Cin P, Antonescu C, Jhanwar S, Ladanyi M, Capelletti M, Rodig S, Ramaiya N, et al. Crizotinib in ALK-rearranged inflammatory myofibroblastic tumor. N Engl J Med. 2010;363:1727–33.CrossRefPubMedPubMedCentralGoogle Scholar
  22. 22.
    Carney J, Stratakis C. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the carney triad. Am J Med Genet. 2002;108:132–9.CrossRefGoogle Scholar
  23. 23.
    Cassier P, Fumagalli E, Rutkowski P, Schöffski P, Van Glabbeke M, Debiec-Rychter M, Emile J, Duffaud F, Martin-Broto J, Landi B, et al. Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era. Clin Cancer Res. 2012;18:4458–64.CrossRefPubMedGoogle Scholar
  24. 24.
    Cessna M, Zhou H, Sanger W, Perkins S, Tripp S, Pickering D, Daines C, Coffin C. Expression of ALK1 and p80 in inflammatory myofibroblastic tumor and its mesenchymal mimics: a study of 135 cases. Mod Pathol. 2002;15:931–8.CrossRefPubMedGoogle Scholar
  25. 25.
    Cheng H, Dodge J, Mehl E, Liu S, Poulin N, van de Rijn M, Nielsen TO. Validation of immature adipogenic status and identification of prognostic biomarkers in myxoid liposarcoma using tissue microarrays. Hum Pathol. 2009;40(9):1244–51.CrossRefGoogle Scholar
  26. 26.
    Chmielecki J, Crago AM, Rosenberg M, O’Connor R, Walker SR, Ambrogio L, Auclair D, McKenna A, Heinrich MC, Frank DA, Meyerson M. Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors. Nat Genet. 2013;45:131–2.CrossRefPubMedPubMedCentralGoogle Scholar
  27. 27.
    Chompret A, Kannengiesser C, Barrois M, Terrier P, Dahan P, Tursz T, Lenoir G, Bressac-de Paillerets B. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology. 2004;126:318–21.CrossRefGoogle Scholar
  28. 28.
    Coindre JM, Pedeutour F, Aurias A. Well-differentiated and dedifferentiated liposarcomas. Virchows Arch. 2010;456:167–79.CrossRefGoogle Scholar
  29. 29.
    Colombo C, Miceli R, Lazar AJ, Perrone F, Pollock RE, Le Cesne A, Hartgrink HH, Cleton-Jansen AM, Domont J, Bovée JV, Bonvalot S, Lev D, Gronchi A. CTNNB1 45F mutation is a molecular prognosticator of increased postoperative primary desmoid tumor recurrence: an independent, multicenter validation study. Cancer. 2013;119(20):3696–702.CrossRefGoogle Scholar
  30. 30.
    Crago AM, Chmielecki J, Rosenberg M, O’Connor R, Byrne C, Wilder FG, Thorn K, Agius P, Kuk D, Socci ND, Qin LX, Meyerson M, Hameed M, Singer S. Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis. Genes Chromosomes Cancer. 2015;54(10):606–15.CrossRefPubMedPubMedCentralGoogle Scholar
  31. 31.
    Crozat A, Aman P, Mandahl N, Ron D. Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma. Nature. 1993;363:640–4.CrossRefPubMedGoogle Scholar
  32. 32.
    Dal Cin P, Sciot R, Panagopoulos I, Aman P, Samson I, Mandahl N, Mitelman F, Van den Berghe H, Fletcher CD. Additional evidence of a variant translocation t(12;22) with EWS/CHOP fusion in myxoid liposarcoma: clinicopathological features. J Pathol. 1997;182:437–41.CrossRefPubMedGoogle Scholar
  33. 33.
    D’Angelo SP, Mahoney MR, Van Tine BA, Adkins DR, Perdekamp MT, Condy MM, Luke JJ, Hartley EW, Antonescu CR, Tap WD, Schwartz GK. Alliance A091103 a phase II study of the angiopoietin 1 and 2 peptibody trebananib for the treatment of angiosarcoma. Cancer Chemother Pharmacol. 2015;75(3):629–38.CrossRefPubMedPubMedCentralGoogle Scholar
  34. 34.
    Davis RJ, Barr FG. Fusion genes resulting from alternative chromosomal translocations are overexpressed by gene-specific mechanisms in alveolar rhabdomyosarcoma. Proc Natl Acad Sci U S A. 1997;94:8047–51.CrossRefPubMedPubMedCentralGoogle Scholar
  35. 35.
    Davis RJ, D’Cruz CM, Lovell MA, Biegel JA, Barr FG. Fusion of PAX7 to FKHR by the variant t(1;13)(p36;q14) translocation in alveolar rhabdomyosarcoma. Cancer Res. 1994;54:2869–72.Google Scholar
  36. 36.
    de Perrot M, Fischer S, Bründler M, Sekine Y, Keshavjee S. Solitary fibrous tumors of the pleura. Ann Thorac Surg. 2002;74:285–93.CrossRefPubMedGoogle Scholar
  37. 37.
    De Raedt T, Cools J, Debiec-Rychter M, Brems H, Mentens N, Sciot R, Himpens J, De Wever I, Schöffski P, Marynen P, Legius E. Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. Gastroenterology. 2006;131:1907–12.CrossRefPubMedGoogle Scholar
  38. 38.
    Debiec-Rychter M, Dumez H, Judson I, Wasag B, Verweij J, Brown M, Dimitrijevic S, Sciot R, Stul M, Vranck H, et al. Use of c-kit/PDGFRA mutational analysis to predict the clinical response to imatinib in patients with advanced gastrointestinal stromal tumours entered on phase I and II studies of the EORTC soft tissue and bone sarcoma group. Eur J Cancer. 2004;40:689–95.CrossRefPubMedGoogle Scholar
  39. 39.
    Debiec-Rychter M, Sciot R, Le Cesne A, Schlemmer M, Hohenberger P, van Oosterom A, Blay J, Leyvraz S, Stul M, Casali P, et al. KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer. 2006;42:1093–103.CrossRefPubMedGoogle Scholar
  40. 40.
    Dehner L. Inflammatory myofibroblastic tumor. The continued definition of one type of so-called inflammatory pseudotumor. Am J Surg Pathol. 2004;28:1652–4.CrossRefPubMedGoogle Scholar
  41. 41.
    Demetri G, von Mehren M, Antonescu C, DeMatteo R, Ganjoo K, Maki R, Pisters P, Raut C, Riedel R, Schuetze S, et al. NCCN task force report: update on the management of patients with gastrointestinal stromal tumors. J Natl Compr Cancer Netw. 2010;8:S1–41.CrossRefGoogle Scholar
  42. 42.
    Demetri G, Wang Y, Wehrle E, Racine A, Nikolova Z, Blanke C, Joensuu H, von Mehren M. Imatinib plasma levels are correlated with clinical benefit in patients with unresectable/metastatic gastrointestinal stromal tumors. J Clin Oncol. 2009;27:3141–7.CrossRefGoogle Scholar
  43. 43.
    Demetri GD, Jeffers M, Reichardt P, et al. Mutational analysis of plasma DNA from patients (pts) in the phase III GRID study of regorafenib (REG) versus placebo (PL) in tyrosine kinase inhibitor (TKI)-refractory GIST: correlating genotype with clinical outcomes. J Clin Oncol. 2013;31:10503.CrossRefGoogle Scholar
  44. 44.
    Demetri GD, von Mehren M, Jones RL, Hensley ML, Schuetze SM, Staddon A, Milhem M, Elias A, Ganjoo K, Tawbi H, Van Tine BA, Spira A, Dean A, Khokhar NZ, Park YC, Knoblauch RE, Parekh TV, Maki RG, Patel SR. Efficacy and safety of Trabectedin or Dacarbazine for metastatic Liposarcoma or Leiomyosarcoma after failure of conventional chemotherapy: results of a phase III randomized multicenter clinical trial. J Clin Oncol. 2016;34(8):786–93.CrossRefPubMedGoogle Scholar
  45. 45.
    Demicco EG, Torres KE, Ghadimi MP, Colombo C, Bolshakov S, Hoffman A, Peng T, Bovee JV, Wang WL, Lev D, Lazar AJ. Involvement of the PI3K/Akt pathway in myxoid/round cell liposarcoma. Mod Pathol. 2012;25:212–21.CrossRefPubMedGoogle Scholar
  46. 46.
    Dews M, Homayouni A, Yu D, Murphy D, Sevignani C, Wentzel E, Furth E, Lee W, Enders G, Mendell J, Thomas-Tikhonenko A. Augmentation of tumor angiogenesis by a Myc-activated microRNA cluster. Nat Genet. 2006;38:1060–5.CrossRefPubMedPubMedCentralGoogle Scholar
  47. 47.
    Dickson MA, Tap WD, Keohan ML, D’Angelo SP, Gounder MM, Antonescu CR, Landa J, Qin LX, Rathbone DD, Condy MM, et al. Phase II trial of the CDK4 inhibitor PD0332991 in patients with advanced CDK4-amplified well-differentiated or dedifferentiated liposarcoma. J Clin Oncol. 2013;31:2024–8.CrossRefPubMedPubMedCentralGoogle Scholar
  48. 48.
    Doyle L, Wang W, Dal Cin P, Lopez-Terrada D, Mertens F, Lazar A, Fletcher C, Hornick J. MUC4 is a sensitive and extremely useful marker for sclerosing epithelioid fibrosarcoma: association with FUS gene rearrangement. Am J Surg Pathol. 2012;36:1444–51.CrossRefPubMedGoogle Scholar
  49. 49.
    Eisenberg B, Trent J. Adjuvant and neoadjuvant imatinib therapy: current role in the management of gastrointestinal stromal tumors. Int J Cancer. 2011;129:2533–42.CrossRefPubMedGoogle Scholar
  50. 50.
    Engstrom K, Willen H, Kabjorn-Gustafsson C, Andersson C, Olsson M, Goransson M, Jarnum S, Olofsson A, Warnhammar E, Aman P. The myxoid/round cell liposarcoma fusion oncogene FUS-DDIT3 and the normal DDIT3 induce a liposarcoma phenotype in transfected human fibrosarcoma cells. Am J Pathol. 2006;168:1642–53.CrossRefPubMedPubMedCentralGoogle Scholar
  51. 51.
    Enzinger FM. Clear-cell sarcoma of tendons and aponeuroses. An analysis of 21 cases. Cancer. 1965;18:1163–74.CrossRefPubMedGoogle Scholar
  52. 52.
    Enzinger FM, Winslow DJ. Liposarcoma. A study of 103 cases. Virchows Arch Pathol Anat Physiol Klin Med. 1962;335:367–88.CrossRefPubMedGoogle Scholar
  53. 53.
    Errani C, Sung Y, Zhang L, Healey J, Antonescu C. Monoclonality of multifocal epithelioid hemangioendothelioma of the liver by analysis of WWTR1-CAMTA1 breakpoints. Cancer Genet. 2012;205:12–7.CrossRefPubMedPubMedCentralGoogle Scholar
  54. 54.
    Errani C, Zhang L, Sung Y, Hajdu M, Singer S, Maki R, Healey J, Antonescu C. A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. Genes Chromosomes Cancer. 2011;50:644–53.CrossRefPubMedPubMedCentralGoogle Scholar
  55. 55.
    Espinosa I, Lee C, Kim M, Rouse B, Subramanian S, Montgomery K, Varma S, Corless C, Heinrich M, Smith K, et al. A novel monoclonal antibody against DOG1 is a sensitive and specific marker for gastrointestinal stromal tumors. Am J Surg Pathol. 2008;32:210–8.CrossRefPubMedGoogle Scholar
  56. 56.
    Evans HL. Low-grade fibromyxoid sarcoma: a clinicopathologic study of 33 cases with long-term follow-up. Am J Surg Pathol. 2011;35:1450–62.CrossRefPubMedGoogle Scholar
  57. 57.
    Fanburg-Smith J, Meis-Kindblom J, Fante R, Kindblom L. Malignant granular cell tumor of soft tissue: diagnostic criteria and clinicopathologic correlation. Am J Surg Pathol. 1998;22:779–94.CrossRefPubMedGoogle Scholar
  58. 58.
    Fisher C. Soft tissue sarcomas with non-EWS translocations: molecular genetic features and pathologic and clinical correlations. Virchows Arch. 2010;456:153–66.CrossRefPubMedGoogle Scholar
  59. 59.
    Fletcher C, Bridge J, Hogendoorn P, Mertens F, editors. WHO classification of tumours of soft tissue and bone. Lyon: IARC Press; 2013.Google Scholar
  60. 60.
    Flucke U, Slootweg P, Mentzel T, Pauwels P, Hulsebos T. Re: infrequent SMARCB1/INI1 gene alteration in epithelioid sarcoma: a useful tool in distinguishing epithelioid sarcoma from malignant rhabdoid tumor: direct evidence of mutational inactivation of SMARCB1/INI1 in epithelioid sarcoma. Hum Pathol. 2009;40:1361–2.CrossRefPubMedGoogle Scholar
  61. 61.
    Folpe AL, Deyrup AT. Alveolar soft-part sarcoma: a review and update. J Clin Pathol. 2006;59:1127–32.CrossRefPubMedPubMedCentralGoogle Scholar
  62. 62.
    Friedrichs N, Küchler J, Endl E, Koch A, Czerwitzki J, Wurst P, Metzger D, Schulte J, Holst M, Heukamp L, et al. Insulin-like growth factor-1 receptor acts as a growth regulator in synovial sarcoma. J Pathol. 2008;216:428–39.CrossRefPubMedGoogle Scholar
  63. 63.
    Friedrichs N, Testi M, Moiraghi L, Modena P, Paggen E, Plötner A, Wiechmann V, Mantovani-Löffler L, Merkelbach-Bruse S, Buettner R, Wardelmann E. Clear cell sarcoma-like tumour with giant cells in the small bowel – further evidence for a new tumor entity? Int J Surg Pathol. 2005;13:313–8.CrossRefPubMedGoogle Scholar
  64. 64.
    Friedrichs N, Trautmann M, Endl E, Sievers E, Kindler D, Wurst P, Czerwitzki J, Steiner S, Renner M, Penzel R, Koch A, Larsson O, Tanaka S, Kawai A, Schirmacher P, Mechtersheimer G, Wardelmann E, Buettner R, Hartmann W. Phosphatidylinositol-3′-kinase/AKT signaling is essential in synovial sarcoma. Int J Cancer. 2011;129(7):1564–75.CrossRefPubMedGoogle Scholar
  65. 65.
    Frith AE, Hirbe AC, Van Tine BA. Novel pathways and molecular targets for the treatment of sarcoma. Curr Oncol Rep. 2013;15:378–85.CrossRefPubMedGoogle Scholar
  66. 66.
    Galili N, Davis RJ, Fredericks WJ, Mukhopadhyay S, Rauscher FJ 3rd, Emanuel BS, Rovera G, Barr FG. Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993;5:230–5.CrossRefPubMedGoogle Scholar
  67. 67.
    Gebhard S, Coindre JM, Michels JJ, Terrier P, Bertrand G, Trassard M, Taylor S, Chateau MC, Marques B, Picot V, Guillou L. Pleomorphic liposarcoma: clinicopathologic, immunohistochemical, and follow-up analysis of 63 cases: a study from the French Federation of Cancer Centers Sarcoma Group. Am J Surg Pathol. 2002;26:601–16.CrossRefPubMedGoogle Scholar
  68. 68.
    Gengler C, Guillou L. Solitary fibrous tumour and haemangiopericytoma: evolution of a concept. Histopathology. 2006;28:67–74.Google Scholar
  69. 69.
    Gleason BC, Hornick JL. Inflammatory myofibroblastic tumours: where are we now? J Clin Pathol. 2008;61:428–37.CrossRefPubMedGoogle Scholar
  70. 70.
    Goldblum J. Giant cell fibroblastoma: a report of three cases with histologic and immunohistochemical evidence of a relationship to dermatofibrosarcoma protuberans. Arch Pathol Lab Med. 1996;120:1052–5.PubMedGoogle Scholar
  71. 71.
    Guillou L, Benhattar J, Gengler C, Gallagher G, Ranchère-Vince D, Collin F, Terrier P, Terrier-Lacombe M, Leroux A, Marquès B, et al. Translocation-positive low-grade fibromyxoid sarcoma: clinicopathologic and molecular analysis of a series expanding the morphologic spectrum and suggesting potential relationship to sclerosing epithelioid fibrosarcoma: a study from the French sarcoma group. Am J Surg Pathol. 2007;31:1387–402.CrossRefPubMedGoogle Scholar
  72. 72.
    Gunawan B, von Heydebreck A, Sander B, Schulten H, Haller F, Langer C, Armbrust T, Bollmann M, Gasparov S, Kovac D, Füzesi F. An oncogenetic tree model in gastrointestinal stromal tumours (GISTs) identifies different pathways of cytogenetic evolution with prognostic implications. J Pathol. 2007;211:463–70.CrossRefPubMedGoogle Scholar
  73. 73.
    Guo T, Zhang L, Chang N, Singer S, Maki R, Antonescu C. Consistent MYC and FLT4 gene amplification in radiation-induced angiosarcoma but not in other radiation-associated atypical vascular lesions. Genes Chromosomes Cancer. 2011;50:25–33.CrossRefPubMedPubMedCentralGoogle Scholar
  74. 74.
    Haller F, Moskalev EA, Faucz FR, Barthelmeß S, Wiemann S, Bieg M, Assie G, Bertherat J, Schaefer IM, Otto C, Rattenberry E, Maher ER, Ströbel P, Werner M, Carney JA, Hartmann A, Stratakis CA, Agaimy A. Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in carney triad. Endocr Relat Cancer. 2014;21(4):567–77.CrossRefPubMedPubMedCentralGoogle Scholar
  75. 75.
    Harms D. Alveolar rhabdomyosarcoma: a prognostically unfavorable rhabdomyosarcoma type and its necessary distinction from embryonal rhabdomyosarcoma. Curr Top Pathol. 1995;89:273–96.CrossRefPubMedGoogle Scholar
  76. 76.
    Hasselblatt M, Isken S, Linge A, Eikmeier K, Jeibmann A, Oyen F, Nagel I, Richter J, Bartelheim K, Kordes U, et al. High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors. Genes Chromosomes Cancer. 2013;52:185–90.CrossRefPubMedGoogle Scholar
  77. 77.
    Hawkins DS, Spunt SL, Skapek SX. Children’s oncology Group’s 2013 blueprint for research: soft tissue sarcomas. Pediatr Blood Cancer. 2013;60:1001–8.CrossRefPubMedGoogle Scholar
  78. 78.
    Heinrich M, Corless C, Blanke CD, Demetri G, Joensuu H, Roberts P, Eisenberg B, Von Mehren M, Fletcher C, Sandau K, et al. Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. JCO. 2006;24:4764–74.CrossRefGoogle Scholar
  79. 79.
    Heinrich M, Owzar K, Corless C, Hollis D, Borden E, Fletcher C, Ryan C, von Mehren M, Blanke C, Rankin C, et al. Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 Study by Cancer and Leukemia Group B and Southwest Oncology Group. J Clin Oncol. 2008;26:5360–7.CrossRefPubMedPubMedCentralGoogle Scholar
  80. 80.
    Henricks WH, Chu YC, Goldblum JR, Weiss SW. Dedifferentiated liposarcoma: a clinicopathological analysis of 155 cases with a proposal for an expanded definition of dedifferentiation. Am J Surg Pathol. 1997;21:271–81.CrossRefPubMedGoogle Scholar
  81. 81.
    Hisaoka M, Ishida T, Kuo T, Matsuyama A, Imamura T, Nishida K, Kuroda H, Inayama Y, Oshiro H, Kobayashi H, et al. Clear cell sarcoma of soft tissue: a clinicopathologic, immunohistochemical, and molecular analysis of 33 cases. Am J Surg Pathol. 2008;32:452–60.CrossRefPubMedPubMedCentralGoogle Scholar
  82. 82.
    Hoffman GJ, Carter D. Clear cell sarcoma of tendons and aponeuroses with melanin. Arch Pathol. 1973;95:22–5.PubMedGoogle Scholar
  83. 83.
    Hohenberger P, Ronellenfitsch U, Oladeji O, Pink D, Ströbel P, Wardelmann E, Reichardt P. Pattern of recurrence in patients with ruptured primary gastrointestinal stromal tumour. Br J Surg. 2010;97:1854–9.CrossRefPubMedGoogle Scholar
  84. 84.
    Hollmann TJ, Hornick JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol. 2011;35(10):e47–63.  https://doi.org/10.1097/PAS.0b013e31822b325b.CrossRefPubMedGoogle Scholar
  85. 85.
    Hoot AC, Russo P, Judkins AR, Perlman EJ, Biegel JA. Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol. 2004;28:1485–91.CrossRefPubMedGoogle Scholar
  86. 86.
    Hornick JL, Bosenberg MW, Mentzel T, McMenamin ME, Oliveira AM, Fletcher CD. Pleomorphic liposarcoma: clinicopathologic analysis of 57 cases. Am J Surg Pathol. 2004;28:1257–67.CrossRefPubMedGoogle Scholar
  87. 87.
    Huss S, Künstlinger H, Wardelmann E, Kleine M, Binot E, Merkelbach-Bruse S, Rüdiger T, Mittler J, Hartmann W, Büttner R, Schildhaus H. A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del). Mod Pathol. 2013;  https://doi.org/10.1038/modpathol.2013.47.
  88. 88.
    Huss S, Nehles J, Binot E, Wardelmann E, Mittler J, Kleine MA, Künstlinger H, Hartmann W, Hohenberger P, Merkelbach-Bruse S, Buettner R, Schildhaus HU. β-Catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Histopathology. 2013;62:294–304.CrossRefPubMedGoogle Scholar
  89. 89.
    Huss S, Wardelmann E, Goltz D, Binot E, Hartmann W, Merkelbach-Bruse S, Büttner R, Schildhaus H. Activating PDGFRA mutations in inflammatory fibroid polyps occur in exons 12, 14 and 18 and are associated with tumour localization. Histopathology. 2012;61:59–68.CrossRefPubMedGoogle Scholar
  90. 90.
    Huss S, Pasternack H, Ihle MA, Merkelbach-Bruse S, Heitkötter B, Hartmann W, Trautmann M, Gevensleben H, Büttner R, Schildhaus HU, Wardelmann E. Clinicopathological and molecular features of a large cohort of gastrointestinal stromal tumors (GISTs) and review of the literature: BRAF mutations in KIT/PDGFRA wild-type GISTs are rare events. Hum Pathol. 2017 Apr;62:206–14.  https://doi.org/10.1016/j.humpath.2017.01.005.CrossRefPubMedGoogle Scholar
  91. 91.
    Italiano A, Bianchini L, Gjernes E, Keslair F, Ranchere-Vince D, Dumollard JM, Haudebourg J, Leroux A, Mainguene C, Terrier P, et al. Clinical and biological significance of CDK4 amplification in well-differentiated and dedifferentiated liposarcomas. Clin Cancer Res. 2009;15:5696–703.CrossRefPubMedGoogle Scholar
  92. 92.
    Italiano A, Bianchini L, Keslair F, Bonnafous S, Cardot-Leccia N, Coindre JM, Dumollard JM, Hofman P, Leroux A, Mainguene C, et al. HMGA2 is the partner of MDM2 in well-differentiated and dedifferentiated liposarcomas whereas CDK4 belongs to a distinct inconsistent amplicon. Int J Cancer. 2008;122:2233–41.CrossRefPubMedGoogle Scholar
  93. 93.
    Italiano A, Cardot N, Dupre F, Monticelli I, Keslair F, Piche M, Mainguene C, Coindre JM, Pedeutour F. Gains and complex rearrangements of the 12q13-15 chromosomal region in ordinary lipomas: the “missing link” between lipomas and liposarcomas? Int J Cancer. 2007;121:308–15.CrossRefPubMedGoogle Scholar
  94. 94.
    Italiano A, Thomas R, Breen M, Zhang L, Crago A, Singer S, Khanin R, Maki R, Mihailovic A, Hafner M, et al. The miR-17-92 cluster and its target THBS1 are differentially expressed in angiosarcomas dependent on MYC amplification. Genes Chromosomes Cancer. 2012;51:569–78.CrossRefPubMedPubMedCentralGoogle Scholar
  95. 95.
    Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA. Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clin Cancer Res. 2009;15:1923–30.CrossRefPubMedPubMedCentralGoogle Scholar
  96. 96.
    Jagani Z, Mora-Blanco EL, Sansam CG, McKenna ES, Wilson B, Chen D, Klekota J, Tamayo P, Nguyen PT, Tolstorukov M, et al. Loss of the tumor suppressor Snf5 leads to aberrant activation of the hedgehog-Gli pathway. Nat Med. 2010;16:1429–33.CrossRefPubMedGoogle Scholar
  97. 97.
    Jha P, Moosavi C, Fanburg-Smith J. Giant cell fibroblastoma: an update and addition of 86 new cases from the Armed Forces Institute of Pathology, in honor of Dr. Franz M. Enzinger. Ann Diagn Pathol. 2007;11:81–8.CrossRefPubMedGoogle Scholar
  98. 98.
    Joensuu H, Wardelmann E, Sihto H, Eriksson M, Sundby Hall K, Reichardt A, Hartmann JT, Pink D, Cameron S, Hohenberger P, Al-Batran SE, Schlemmer M, Bauer S, Nilsson B, Kallio R, Junnila J, Vehtari A, Reichardt P. Effect of KIT and PDGFRA mutations on survival in patients with gastrointestinal stromal tumors treated with adjuvant Imatinib: an exploratory analysis of a randomized clinical trial. JAMA Oncol. 2017;  https://doi.org/10.1001/jamaoncol.2016.5751. [Epub ahead of print].
  99. 99.
    Joensuu H, Eriksson M, Sundby Hall K, Reichardt A, Hartmann JT, Pink D, Ramadori G, Hohenberger P, Al-Batran SE, Schlemmer M, Bauer S, Wardelmann E, Nilsson B, Sihto H, Bono P, Kallio R, Junnila J, Alvegård T, Reichardt P. Adjuvant Imatinib for high-risk GI stromal tumor: analysis of a randomized trial. J Clin Oncol. 2016;34(3):244–50.CrossRefPubMedGoogle Scholar
  100. 100.
    Joshi D, Anderson JR, Paidas C, Breneman J, Parham DM, Crist W. Age is an independent prognostic factor in rhabdomyosarcoma: a report from the Soft Tissue Sarcoma Committee of the Children’s Oncology Group. Pediatr Blood Cancer. 2004;42:64–73.CrossRefPubMedGoogle Scholar
  101. 101.
    Kadoch C, Crabtree GR. Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma. Cell. 2013;153:71–85.CrossRefPubMedPubMedCentralGoogle Scholar
  102. 102.
    Kasper B, Ströbel P, Hohenberger P. Desmoid tumors: clinical features and treatment options for advanced disease. Oncologist. 2011;16:682–93.CrossRefPubMedPubMedCentralGoogle Scholar
  103. 103.
    Keller C, Arenkiel BR, Coffin CM, El-Bardeesy N, DePinho RA, Capecchi MR. Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function. Genes Dev. 2004;18:2614–26.CrossRefPubMedPubMedCentralGoogle Scholar
  104. 104.
    Kilpatrick SE, Doyon J, Choong PF, Sim FH, Nascimento AG. The clinicopathologic spectrum of myxoid and round cell liposarcoma. A study of 95 cases. Cancer. 1996;77:1450–8.CrossRefPubMedGoogle Scholar
  105. 105.
    Kinoshita K, Hirota S, Isozaki K, Ohashi A, Nishida T, Kitamura Y, Shinomura Y, Matsuzawa Y. Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type I patients. J Pathol. 2004;202:80–5.CrossRefPubMedGoogle Scholar
  106. 106.
    Kodet R, Newton WA Jr, Sachs N, Hamoudi AB, Raney RB, Asmar L, Gehan EA. Rhabdoid tumors of soft tissues: a clinicopathologic study of 26 cases enrolled on the intergroup rhabdomyosarcoma study. Hum Pathol. 1991;22:674–84.CrossRefPubMedGoogle Scholar
  107. 107.
    Kohsaka S, Shukla N, Ameur N, Ito T, Ng CK, Wang L, Lim D, Marchetti A, Viale A, Pirun M, Socci ND, Qin LX, Sciot R, Bridge J, Singer S, Meyers P, Wexler LH, Barr FG, Dogan S, Fletcher JA, Reis-Filho JS, Ladanyi M. A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations. Nat Genet. 2014;46(6):595–600.CrossRefPubMedPubMedCentralGoogle Scholar
  108. 108.
    Kosemehmetoglu K, Folpe A. Clear cell sarcoma of tendons and aponeuroses, and osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: a review and update. J Clin Pathol. 2010;63:416–23.CrossRefPubMedGoogle Scholar
  109. 109.
    Ladanyi M. Fusions of the SYT and SSX genes in synovial sarcoma. Oncogene. 2001;20:5755–62.CrossRefGoogle Scholar
  110. 110.
    Ladanyi M, Antonescu CR, Leung DH, Woodruff JM, Kawai A, Healey JH, Brennan MF, Bridge JA, Neff JR, Barr FG, et al. Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243 patients. Cancer Res. 2002;62:135–40.Google Scholar
  111. 111.
    Lasota J, Dansonka-Mieszkowska A, Sobin L, Miettinen M. A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. Lab Investig. 2004;84:874–83.CrossRefGoogle Scholar
  112. 112.
    Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology. 2008;53:245–66.CrossRefGoogle Scholar
  113. 113.
    Lee RS, Stewart C, Carter SL, Ambrogio L, Cibulskis K, Sougnez C, Lawrence MS, Auclair D, Mora J, Golub TR, et al. A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest. 2012;122:2983–8.CrossRefPubMedPubMedCentralGoogle Scholar
  114. 114.
    Levard A, Derbel O, Méeus P, Ranchère D, Ray-Coquard I, Blay J, Cassier P. Outcome of patients with advanced solitary fibrous tumors: the Centre Léon Bérard experience. BMC Cancer. 2013;13:109.CrossRefPubMedPubMedCentralGoogle Scholar
  115. 115.
    Liegl B, Hornick J, Corless C, Fletcher C. Monoclonal antibody DOG1.1 shows higher sensitivity than KIT in the diagnosis of gastrointestinal stromal tumors, including unusual subtypes. Am J Surg Pathol. 2009;33:437–46.CrossRefGoogle Scholar
  116. 116.
    Liegl B, Kepten I, Le C, Zhu M, Demetri G, Heinrich M, Fletcher C, Corless C, Fletcher J. Heterogeneity of kinase inhibitor resistance mechanisms in GIST. J Pathol. 2008;216:64–74.CrossRefPubMedPubMedCentralGoogle Scholar
  117. 117.
    Lips DJ, Barker N, Clevers H, Hennipman A. The role of APC and beta-catenin in the aetiology of aggressive fibromatosis (desmoid tumors). Eur J Surg Oncol. 2009;35:3–10.CrossRefGoogle Scholar
  118. 118.
    Llombart B, Serra-Guillén C, Monteagudo C, López Guerrero J, Sanmartín O. Dermatofibrosarcoma protuberans: a comprehensive review and update on diagnosis and management. Semin Diagn Pathol. 2013;30:13–28.CrossRefGoogle Scholar
  119. 119.
    Lovly CM, Gupta A, Lipson D, Otto G, Brennan T, Chung CT, Borinstein SC, Ross JS, Stephens PJ, Miller VA, Coffin CM. Inflammatory myofibroblastic tumors harbor multiple potentially actionable kinase fusions. Cancer Discov. 2014;4(8):889–95.CrossRefPubMedPubMedCentralGoogle Scholar
  120. 120.
    Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC 3rd, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015;166(4):1048–54.CrossRefPubMedPubMedCentralGoogle Scholar
  121. 121.
    Manner J, Radlwimmer B, Hohenberger P, Mössinger K, Küffer S, Sauer C, Belharazem D, Zettl A, Coindre J, Hallermann C, et al. MYC high level gene amplification is a distinctive feature of angiosarcomas after irradiation or chronic lymphedema. Am J Pathol. 2010;176:34–9.CrossRefPubMedPubMedCentralGoogle Scholar
  122. 122.
    Martin J, Poveda A, Llombart-Bosch A, Ramos R, López-Guerrero J, Garcia del Muro J, Maurel J, Calabuig S, Gutierrez A, González de Sande J, et al. Deletions affecting codons 557–558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). J Clin Oncol. 2005;23:6190–8.CrossRefGoogle Scholar
  123. 123.
    Martin-Broto J, Gutierrez A, Garcia-del-Muro X, Lopez-Guerrero J, Martinez-Trufero J, de Sande L, Lainez N, Maurel J, De Juan A, Losa F, et al. Prognostic time dependence of deletions affecting codons 557 and/or 558 of KIT gene for relapse-free survival (RFS) in localized GIST: a Spanish Group for Sarcoma Research (GEIS) study. Ann Oncol. 2010;21:1552–7.CrossRefGoogle Scholar
  124. 124.
    McArthur G, Demetri G, van Oosterom A, Heinrich M, Debiec-Rychter M, Corless C, Nikolova Z, Dimitrijevic S, Fletcher F. Molecular and clinical analysis of locally advanced dermatofibrosarcoma protuberans treated with imatinib: Imatinib Target Exploration Consortium Study B2225. J Clin Oncol. 2005;23:866–73.CrossRefGoogle Scholar
  125. 125.
    McCormick D, Mentzel T, Beham A, Fletcher CD. Dedifferentiated liposarcoma. Clinicopathologic analysis of 32 cases suggesting a better prognostic subgroup among pleomorphic sarcomas. Am J Surg Pathol. 1994;18:1213–23.CrossRefGoogle Scholar
  126. 126.
    Meis-Kindblom JM, Kindblom LG, Enzinger FM. Sclerosing epithelioid fibrosarcoma. A variant of fibrosarcoma simulating carcinoma. Am J Surg Pathol. 1995;19:979–93.CrossRefGoogle Scholar
  127. 127.
    Mendlick M, Nelson M, Pickering D, Johansson S, Seemayer T, Neff J, Vergara G, Rosenthal H, Bridge J. Translocation t(1;3)(p36.3;q25) is a nonrandom aberration in epithelioid hemangioendothelioma. Am J Surg Pathol. 2001;25:684–7.CrossRefGoogle Scholar
  128. 128.
    Mentzel T, Schildhaus HU, Palmedo G, Buttner R, Kutzner H. Postradiation cutaneous angiosarcoma after treatment of breast carcinoma is characterized by MYC amplification in contrast to atypical vascular lesions after radiotherapy and control cases: clinicopathological, immunohistochemical and molecular analysis of 66 cases. Mod Pathol. 2012;25:75–85.CrossRefPubMedPubMedCentralGoogle Scholar
  129. 129.
    Michels S, Trautmann M, Sievers E, Kindler D, Huss S, Renner M, Friedrichs N, Kirfel J, Steiner S, Endl E, Wurst P, Heukamp L, Penzel R, Larsson O, Kawai A, Tanaka S, Sonobe H, Schirmacher P, Mechtersheimer G, Wardelmann E, Büttner R, Hartmann W. SRC signaling is crucial in the growth of synovial sarcoma cells. Cancer Res. 2013;73(8):2518–28.CrossRefGoogle Scholar
  130. 130.
    Miettinen M, Lasota J. Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol. 2006;23:70–83.CrossRefGoogle Scholar
  131. 131.
    Miettinen M, Limon J, Niezabitowski A, Lasota J. Patterns of keratin polypeptides in 110 biphasic, monophasic, and poorly differentiated synovial sarcomas. Virchows Arch. 2000;437:275–83.CrossRefGoogle Scholar
  132. 132.
    Miettinen M, Wang Z, Lasota J. DOG1 antibody in the differential diagnosis of gastrointestinal stromal tumors: a study of 1840 cases. Am J Surg Pathol. 2009;33:1401–8.CrossRefGoogle Scholar
  133. 133.
    Mohajeri A, Tayebwa J, Collin A, Nilsson J, Magnusson L, von Steyern FV, Brosjo O, Domanski HA, Larsson O, Sciot R, et al. Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor. Genes Chromosomes Cancer. 2013;  https://doi.org/10.1002/gcc.22083.
  134. 134.
    Moore JR, Weiland AJ, Curtis RM. Localized nodular tenosynovitis: experience with 115 cases. J Hand Surg Am. 1984;9:412–7.CrossRefGoogle Scholar
  135. 135.
    Morotti RA, Nicol KK, Parham DM, Teot LA, Moore J, Hayes J, Meyer W, Qualman SJ. An immunohistochemical algorithm to facilitate diagnosis and subtyping of rhabdomyosarcoma: the Children’s Oncology Group experience. Am J Surg Pathol. 2006;30:962–8.CrossRefPubMedPubMedCentralGoogle Scholar
  136. 136.
    Mussi C, Schildhaus H, Gronchi A, Wardelmann E, Hohenberger P. Therapeutic consequences from molecular biology for GIST patients affected by neurofibromatosis type I. Clin Cancer Res. 2008;14:4550–5.CrossRefGoogle Scholar
  137. 137.
    Negri T, Virdis E, Brich S, Bozzi F, Tamborini E, Tarantino E, Jocolle G, Cassinelli G, Grosso F, Sanfilippo R, et al. Functional mapping of receptor tyrosine kinases in myxoid liposarcoma. Clin Cancer Res. 2010;16:3581–93.CrossRefGoogle Scholar
  138. 138.
    Neuhann T, Mansmann V, Merkelbach-Bruse S, Klink B, Hellinger A, Höffkes H, Wardelmann E, Schildhaus H, Tinschert S. A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. Am J Surg Pathol. 2013;37:898–905.CrossRefPubMedPubMedCentralGoogle Scholar
  139. 139.
    Nielsen AL, Kiaer T. Malignant giant cell tumor of synovium and locally destructive pigmented villonodular synovitis: ultrastructural and immunohistochemical study and review of the literature. Hum Pathol. 1989;20:765–71.CrossRefPubMedPubMedCentralGoogle Scholar
  140. 140.
    Nieuwenhuis M, Lefevre J, Bülow S, Järvinen H, Bertario L, Kernéis S, Parc Y, Vasen H. Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study. Dis Colon Rectum. 2011;54:1229–34.CrossRefGoogle Scholar
  141. 141.
    Nilsson B, Bümming P, Meis-Kindblom JM, Odén A, Dortok A, Gustavsson B, Sablinska K, Kindblom LG. Gastrointestinal stromal tumors: the incidence, prevalence, clinical course, and prognostication in the preimatinib mesylate era – a population-based study in western Sweden. Cancer. 2005;103:821–9.CrossRefPubMedPubMedCentralGoogle Scholar
  142. 142.
    Oda Y, Tsuneyoshi M. Extrarenal rhabdoid tumors of soft tissue: clinicopathological and molecular genetic review and distinction from other soft-tissue sarcomas with rhabdoid features. Pathol Int. 2006;56:287–95.CrossRefPubMedPubMedCentralGoogle Scholar
  143. 143.
    Ognjanovic S, Linabery AM, Charbonneau B, Ross JA. Trends in childhood rhabdomyosarcoma incidence and survival in the United States, 1975–2005. Cancer. 2009;115:4218–26.CrossRefPubMedPubMedCentralGoogle Scholar
  144. 144.
    Olsen SH, Thomas DG, Lucas DR. Cluster analysis of immunohistochemical profiles in synovial sarcoma, malignant peripheral nerve sheath tumor, and Ewing sarcoma. Mod Pathol. 2006;19:659–68.CrossRefGoogle Scholar
  145. 145.
    Orbach D, Rey A, Cecchetto G, Oberlin O, Casanova M, Thebaud E, Scopinaro M, Bisogno G, Carli M, Ferrari A. Infantile fibrosarcoma: management based on the European experience. J Clin Oncol. 2010;28:318–23.CrossRefGoogle Scholar
  146. 146.
    Orbach D, Brennan B, De Paoli A, et al. Conservative strategy in infantile fibrosarcoma is possible: the European paediatric soft tissue sarcoma study group experience. Eur J Cancer. 2016;57:1–9.CrossRefGoogle Scholar
  147. 147.
    Ouladan S, Trautmann M, Orouji E, Hartmann W, Huss S, Büttner R, Wardelmann E. Differential diagnosis of solitary fibrous tumors: a study of 454 soft tissue tumors indicating the diagnostic value of nuclear STAT6 relocation and ALDH1 expression combined with in situ proximity ligation assay. Int J Oncol. 2015;46(6):2595–605.CrossRefGoogle Scholar
  148. 148.
    Panagopoulos I, Hoglund M, Mertens F, Mandahl N, Mitelman F, Aman P. Fusion of the EWS and CHOP genes in myxoid liposarcoma. Oncogene. 1996;12:489–94.PubMedGoogle Scholar
  149. 149.
    Panagopoulos I, Mertens F, Debiec-Rychter M, Isaksson M, Limon J, Kardas I, Domanski HA, Sciot R, Perek D, Crnalic S, et al. Molecular genetic characterization of the EWS/ATF1 fusion gene in clear cell sarcoma of tendons and aponeuroses. Int J Cancer. 2002;99:560–7.CrossRefGoogle Scholar
  150. 150.
    Panagopoulos I, Mertens F, Isaksson M, Domanski HA, Brosjo O, Heim S, Bjerkehagen B, Sciot R, Dal Cin P, Fletcher JA, et al. Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma. Genes Chromosomes Cancer. 2002;35(4):340–52.CrossRefGoogle Scholar
  151. 151.
    Pantaleo M, Astolfi A, Indio V, Moore R, Thiessen N, Heinrich M, Gnocchi C, Santini D, Catena F, Formica S, et al. SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. J Natl Cancer Inst. 2011;103:983–7.CrossRefGoogle Scholar
  152. 152.
    Pantaleo MA, Nannini M, Corless CL, Heinrich MC. Quadruple wild-type (WT) GIST: defining the subset of GIST that lacks abnormalities of KIT, PDGFRA, SDH, or RAS signaling pathways. Cancer Med. 2015;4(1):101–3.CrossRefGoogle Scholar
  153. 153.
    Pantaleo MA, Urbini M, Indio V, Ravegnini G, Nannini M, De Luca M, Tarantino G, Angelini S, Gronchi A, Vincenzi B, Grignani G, Colombo C, Fumagalli E, Gatto L, Saponara M, Ianni M, Paterini P, Santini D, Pirini MG, Ceccarelli C, Altimari A, Gruppioni E, Renne SL, Collini P, Stacchiotti S, Brandi G, Casali PG, Pinna AD, Astolfi A, Biasco G. Genome-wide analysis identifies MEN1 and MAX mutations and a neuroendocrine-like molecular heterogeneity in quadruple WT GIST. Mol Cancer Res. 2017;15(5):553–62.CrossRefGoogle Scholar
  154. 154.
    Parham DM, Alaggio R, Coffin CM. Myogenic tumors in children and adolescents. Pediatr Dev Pathol. 2012;15:211–38.CrossRefPubMedPubMedCentralGoogle Scholar
  155. 155.
    Pasini B, McWhinney S, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos S, Ferrando B, Pacak K, Assie G, et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet. 2008;16:79–88.CrossRefPubMedPubMedCentralGoogle Scholar
  156. 156.
    Patel KU, Szabo SS, Hernandez VS, Prieto VG, Abruzzo LV, Lazar AJ, Lopez-Terrada D. Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays. Hum Pathol. 2008;39:184–93.CrossRefPubMedPubMedCentralGoogle Scholar
  157. 157.
    Pauls K, Merkelbach-Bruse S, Thal D, Büttner R, Wardelmann E. PDGFR- and c-kit mutated gastrointestinal stromal tumors (GISTs) are characterized by distinctive histological and immunohistochemical features. Histopathology. 2004;46:166–75.CrossRefGoogle Scholar
  158. 158.
    Paulson V, Chandler G, Rakheja D, Galindo RL, Wilson K, Amatruda JF, Cameron S. High-resolution array CGH identifies common mechanisms that drive embryonal rhabdomyosarcoma pathogenesis. Genes Chromosomes Cancer. 2011;50:397–408.CrossRefPubMedPubMedCentralGoogle Scholar
  159. 159.
    Penel N, Marreaud S, Robin YM, Hohenberger P. Angiosarcoma: state of the art and perspectives. Crit Rev Oncol Hematol. 2011;80:257–63.CrossRefPubMedPubMedCentralGoogle Scholar
  160. 160.
    Philippe-Chomette P, Kabbara N, Andre N, Pierron G, Coulomb A, Laurence V, Blay JY, Delattre O, Schleiermacher G, Orbach D. Desmoplastic small round cell tumors with EWS-WT1 fusion transcript in children and young adults. Pediatr Blood Cancer. 2012;58:891–7.CrossRefPubMedPubMedCentralGoogle Scholar
  161. 161.
    Qualman S, Lynch J, Bridge J, et al. Prevalence and clinical impact of anaplasia in childhood rhabdomyosarcoma: a report from the Soft Tissue Sarcoma Committee of the Children’s Oncology Group. Cancer. 2008;113(11):3242–7.CrossRefPubMedPubMedCentralGoogle Scholar
  162. 162.
    Rabbitts TH, Forster A, Larson R, Nathan P. Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma. Nat Genet. 1993;4:175–80.CrossRefPubMedPubMedCentralGoogle Scholar
  163. 163.
    Raney RB, Anderson JR, Barr FG, Donaldson SS, Pappo AS, Qualman SJ, Wiener ES, Maurer HM, Crist WM. Rhabdomyosarcoma and undifferentiated sarcoma in the first two decades of life: a selective review of intergroup rhabdomyosarcoma study group experience and rationale for Intergroup Rhabdomyosarcoma Study V. J Pediatr Hematol Oncol. 2001;23:215–20.CrossRefPubMedPubMedCentralGoogle Scholar
  164. 164.
    Raney RB, Anderson JR, Brown KL, Huh WW, Maurer HM, Meyer WH, Parham DM, Rodeberg DA, Wolden SL, Donaldson SS. Treatment results for patients with localized, completely resected (group I) alveolar rhabdomyosarcoma on Intergroup Rhabdomyosarcoma Study Group (IRSG) protocols III and IV, 1984–1997: a report from the Children’s Oncology Group. Pediatr Blood Cancer. 2010;55:612–6.CrossRefPubMedPubMedCentralGoogle Scholar
  165. 165.
    Rao AS, Vigorita VJ. Pigmented villonodular synovitis (giant-cell tumor of the tendon sheath and synovial membrane). A review of eighty-one cases. J Bone Joint Surg Am. 1984;66:76–94.CrossRefPubMedPubMedCentralGoogle Scholar
  166. 166.
    Ray-Coquard I, Blay JY, Italiano A, Le Cesne A, Penel N, Zhi J, Heil F, Rueger R, Graves B, Ding M, et al. Effect of the MDM2 antagonist RG7112 on the P53 pathway in patients with MDM2-amplified, well-differentiated or dedifferentiated liposarcoma: an exploratory proof-of-mechanism study. Lancet Oncol 2012;13:1133–1140.Google Scholar
  167. 167.
    Reis H, Hager T, Wohlschlaeger J, Bauer S, Katenkamp K, Katenkamp D, Bubba H. Mammalian target of rapamycin pathway activity in alveolar soft part sarcoma. Hum Pathol. 2013;44(10):2266–74.CrossRefPubMedPubMedCentralGoogle Scholar
  168. 168.
    Rekhi B, Ingle A, Agarwal M, Puri A, Laskar S, Jambhekar N. Alveolar soft part sarcoma ‘revisited’: clinicopathological review of 47 cases from a tertiary cancer referral centre, including immunohistochemical expression of TFE3 in 22 cases and 21 other tumours. Pathology. 2012;44:11–7.CrossRefPubMedPubMedCentralGoogle Scholar
  169. 169.
    Rutkowski P, Van Glabbeke M, Rankin C, Ruka W, Rubin B, Debiec-Rychter M, Lazar A, Gelderblom H, Sciot R, Lopez-Terrada D, et al. Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol. 2010;28:1772–9.CrossRefPubMedPubMedCentralGoogle Scholar
  170. 170.
    Sandberg A, Bridge J. Updates in the cytogenetics and molecular genetics of bone and soft tissue tumors. Gastrointestinal stromal tumors. Cancer Genet Cytogenet. 2002;135:1–22.CrossRefPubMedPubMedCentralGoogle Scholar
  171. 171.
    Schaefer IM, Wang Y, Liang CW, Bahri N, Quattrone A, Doyle L, Mariño-Enríquez A, Lauria A, Zhu M, Debiec-Rychter M, Grunewald S, Hechtman JF, Dufresne A, Antonescu CR, Beadling C, Sicinska ET, van de Rijn M, Demetri GD, Ladanyi M, Corless CL, Heinrich MC, Raut CP, Bauer S, Fletcher JA. MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation. Nat Commun. 2017;8(8):14674.CrossRefPubMedPubMedCentralGoogle Scholar
  172. 172.
    Schildhaus H, Cavlar T, Binot E, Buettner R, Wardelmann E, Merkelbach-Bruse S. Inflammatory fibroid polyps harbour mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene. J Pathol. 2008;216:176–82.CrossRefPubMedPubMedCentralGoogle Scholar
  173. 173.
    Schirosi L, Lantuejoul S, Cavazza A, Murer B, Yves Brichon P, Migaldi M, Sartori G, Sgambato A, Rossi G. Pleuro-pulmonary solitary fibrous tumors: a clinicopathologic, immunohistochemical, and molecular study of 88 cases confirming the prognostic value of de Perrot staging system and p53 expression, and evaluating the role of c-kit, BRAF, PDGFRs (alpha/beta), c-met, and EGFR. Am J Surg Pathol. 2008;32:1627–42.CrossRefPubMedPubMedCentralGoogle Scholar
  174. 174.
    Schneider-Stock R, Boltze C, Lasota J, Miettinen M, Peters B, Pross M, Roessner A, Günther T. High prognostic value of p16INK4 alterations in gastrointestinal stromal tumors. J Clin Oncol. 2003;21:1688–97.CrossRefPubMedPubMedCentralGoogle Scholar
  175. 175.
    Schneider-Stock R, Boltze C, Lasota J, Peters B, Corless C, Ruemmele P, Terracciano L, Pross M, Insabato L, Di Vizio D, et al. Loss of p16 protein defines high-risk patients with gastrointestinal stromal tumors: a tissue microarray study. Clin Cancer Res. 2005;11:638–45.PubMedGoogle Scholar
  176. 176.
    Schneider-Stock R, Walter H, Radig K, Rys J, Bosse A, Kuhnen C, Hoang-Vu C, Roessner A. MDM2 amplification and loss of heterozygosity at Rb and p53 genes: no simultaneous alterations in the oncogenesis of liposarcomas. J Cancer Res Clin Oncol. 1998;124:532–40.CrossRefGoogle Scholar
  177. 177.
    Schneppenheim R, Fruhwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, et al. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010;86:279–84.CrossRefPubMedPubMedCentralGoogle Scholar
  178. 178.
    Schwartz HS, Unni KK, Pritchard DJ. Pigmented villonodular synovitis. A retrospective review of affected large joints. Clin Orthop Relat Res. 1989;247:243–55.Google Scholar
  179. 179.
    Schweizer L, Koelsche C, Sahm F, Piro R, Capper D, Reuss D, Pusch S, Habel A, Meyer J, Göck T, et al. Meningeal hemangiopericytoma and solitary fibrous tumors carry the NAB2-STAT6 fusion and can be diagnosed by nuclear expression of STAT6 protein. Acta Neuropathol. 2013;125:651–8.CrossRefPubMedGoogle Scholar
  180. 180.
    Scrable H, Witte D, Shimada H, Seemayer T, Sheng WW, Soukup S, Koufos A, Houghton P, Lampkin B, Cavenee W. Molecular differential pathology of rhabdomyosarcoma. Genes Chromosomes Cancer. 1989;1:23–35.CrossRefPubMedGoogle Scholar
  181. 181.
    Sebire NJ, Malone M. Myogenin and MyoD1 expression in paediatric rhabdomyosarcomas. J Clin Pathol. 2003;56:412–6.CrossRefPubMedPubMedCentralGoogle Scholar
  182. 182.
    Shern JF, Chen L, Chmielecki J, Wei JS, Patidar R, Rosenberg M, Ambrogio L, Auclair D, Wang J, Song YK, Tolman C, Hurd L, Liao H, Zhang S, Bogen D, Brohl AS, Sindiri S, Catchpoole D, Badgett T, Getz G, Mora J, Anderson JR, Skapek SX, Barr FG, Meyerson M, Hawkins DS, Khan J. Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors. Cancer Discov. 2014;4(2):216–31.CrossRefPubMedPubMedCentralGoogle Scholar
  183. 183.
    Shi E, Chmielecki J, Tang CM, et al. FGFR1 and NTRK3 actionable alterations in “Wild-Type” gastrointestinal stromal tumors. J Transl Med. 2016;14:339.CrossRefPubMedPubMedCentralGoogle Scholar
  184. 184.
    Sirvent N, Coindre JM, Maire G, Hostein I, Keslair F, Guillou L, Ranchere-Vince D, Terrier P, Pedeutour F. Detection of MDM2-CDK4 amplification by fluorescence in situ hybridization in 200 paraffin-embedded tumor samples: utility in diagnosing adipocytic lesions and comparison with immunohistochemistry and real-time PCR. Am J Surg Pathol. 2007;31:1476–89.CrossRefGoogle Scholar
  185. 185.
    Sobanko JF, Meijer L, Nigra TP. Epithelioid sarcoma: a review and update. J Clin Aesthet Dermatol. 2009;2:49–54.PubMedPubMedCentralGoogle Scholar
  186. 186.
    Somerhausen NS, Fletcher CD. Diffuse-type giant cell tumor: clinicopathologic and immunohistochemical analysis of 50 cases with extraarticular disease. Am J Surg Pathol. 2000;24:479–92.CrossRefPubMedGoogle Scholar
  187. 187.
    Spunt SL, Million L, Coffin C. The nonrhabdomyosarcoma soft tissue sarcoma. In: Pizzo PA, Poplack DG, editors. Principles and practice of pediatric oncology. 7th ed. Philadelphia: Lippincott Williams and Wilkins; 2015. p. 827–54.Google Scholar
  188. 188.
    Stacchiotti S, Negri T, Palassini E, Conca E, Gronchi A, Morosi C, Messina A, Pastorino U, Pierotti M, Casali P, Pilotti S. Sunitinib malate and figitumumab in solitary fibrous tumor: patterns and molecular bases of tumor response. Mol Cancer Ther. 2010;9:1286–97.CrossRefPubMedGoogle Scholar
  189. 189.
    Stacchiotti S, Tamborini E, Marrari A, Brich S, Rota SA, Orsenigo M, Crippa F, Morosi C, Gronchi A, Pierotti MA, et al. Response to sunitinib malate in advanced alveolar soft part sarcoma. Clin Cancer Res. 2009;15:1096–104.CrossRefPubMedGoogle Scholar
  190. 190.
    Stockman DL1, Miettinen M, Suster S, Spagnolo D, Dominguez-Malagon H, Hornick JL, Adsay V, Chou PM, Amanuel B, Vantuinen P, Zambrano EV. Malignant gastrointestinal neuroectodermal tumor: clinicopathologic, immunohistochemical, ultrastructural, and molecular analysis of 16 cases with a reappraisal of clear cell sarcoma-like tumors of the gastrointestinal tract. Am J Surg Pathol. 2012;36(6):857–68.CrossRefPubMedGoogle Scholar
  191. 191.
    Stratakis C, Carney J. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med. 2009;266:43–52.CrossRefPubMedPubMedCentralGoogle Scholar
  192. 192.
    Su L, Sampaio AV, Jones KB, Pacheco M, Goytain A, Lin S, Poulin N, Yi L, Rossi FM, Kast J, et al. Deconstruction of the SS18-SSX fusion oncoprotein complex: insights into disease etiology and therapeutics. Cancer Cell. 2012;21:333–47.CrossRefPubMedPubMedCentralGoogle Scholar
  193. 193.
    Sultan I, Rodriguez-Galindo C, Saab R, Yasir S, Casanova M, Ferrari A. Comparing children and adults with synovial sarcoma in the surveillance, epidemiology, and end results program, 1983 to 2005: an analysis of 1268 patients. Cancer. 2009;115:3537–47.CrossRefPubMedGoogle Scholar
  194. 194.
    Sun B, Sun Y, Wang J, Zhao X, Zhang S, Liu Y, Li X, Feng Y, Zhou H, Hao X. The diagnostic value of SYT-SSX detected by reverse transcriptase-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) for synovial sarcoma: a review and prospective study of 255 cases. Cancer Sci. 2008;99:1355–61.CrossRefPubMedGoogle Scholar
  195. 195.
    Szucs Z, Thway K, Fisher C, Bulusu R, Constantinidou A, Benson C, van der Graaf WTA, Jones RL. Promising novel therapeutic approaches in the management of gastrointestinal stromal tumors. Future Oncology. 2017;13(2):185–94.CrossRefPubMedGoogle Scholar
  196. 196.
    Takahashi Y, Oda Y, Kawaguchi K, Tamiya S, Yamamoto H, Suita S, Tsuneyoshi M. Altered expression and molecular abnormalities of cell-cycle-regulatory proteins in rhabdomyosarcoma. Mod Pathol. 2004;17:660–9.CrossRefPubMedGoogle Scholar
  197. 197.
    Takazawa Y, Sakurai S, Sakuma Y, Ikeda T, Yamaguchi J, Hashizume Y, Yokoyama S, Motegi A, Fukayama M. Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklingshausen’s disease). Am J Surg Pathol. 2005;29:755–63.CrossRefPubMedGoogle Scholar
  198. 198.
    Tap WD, Wainberg ZA, Anthony SP, Ibrahim PN, Zhang C, Healey JH, Chmielowski B, Staddon AP, Cohn AL, Shapiro GI, Keedy VL, Singh AS, Puzanov I, Kwak EL, Wagner AJ, Von Hoff DD, Weiss GJ, Ramanathan RK, Zhang J, Habets G, Zhang Y, Burton EA, Visor G, Sanftner L, Severson P, Nguyen H, Kim MJ, Marimuthu A, Tsang G, Shellooe R, Gee C, West BL, Hirth P, Nolop K, van de Rijn M, Hsu HH, Peterfy C, Lin PS, Tong-Starksen S, Bollag G. Structure-guided blockade of CSF1R kinase in Tenosynovial giant-cell tumor. N Engl J Med. 2015;373(5):428–37.CrossRefPubMedGoogle Scholar
  199. 199.
    Taylor BS, Barretina J, Socci ND, Decarolis P, Ladanyi M, Meyerson M, Singer S, Sander C. Functional copy-number alterations in cancer. PLoS One. 2008;3:e3179.CrossRefPubMedPubMedCentralGoogle Scholar
  200. 200.
    Taylor BS, DeCarolis PL, Angeles CV, Brenet F, Schultz N, Antonescu CR, Scandura JM, Sander C, Viale AJ, Socci ND, Singer S. Frequent alterations and epigenetic silencing of differentiation pathway genes in structurally rearranged liposarcomas. Cancer Discov. 2011;1:587–97.CrossRefPubMedPubMedCentralGoogle Scholar
  201. 201.
    Tejpar S, Nollet F, Li C, Wunder J, Michils G, dal Cin P, Van Cutsem E, Bapat B, van Roy F, Cassiman J, Alman B. Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene. 1999;18:6615–20.CrossRefGoogle Scholar
  202. 202.
    Terrier-Lacombe M, Guillou L, Maire G, Terrier P, Vince D, de Saint Aubain Somerhausen N, Collin F, Pedeutour F, Coindre J. Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: clinicopathologic comparative analysis of 28 cases with molecular data – a study from the French Federation of Cancer Centers Sarcoma Group. Am J Surg Pathol. 2003;27:27–39.CrossRefPubMedGoogle Scholar
  203. 203.
    Terry J, Saito T, Subramanian S, Ruttan C, Antonescu CR, Goldblum JR, Downs-Kelly E, Corless CL, Rubin BP, van de Rijn M, et al. TLE1 as a diagnostic immunohistochemical marker for synovial sarcoma emerging from gene expression profiling studies. Am J Surg Pathol. 2007;31:240–6.CrossRefPubMedGoogle Scholar
  204. 204.
    Tothova Z, Wagner A. Anaplastic lymphoma kinase-directed therapy in inflammatory myofibroblastic tumors. Curr Opin Oncol. 2012;24:409–13.CrossRefPubMedGoogle Scholar
  205. 205.
    Trautmann M, Menzel J, Bertling C, Cyra M, Isfort I, Steinestel K, Elges S, Grünewald I, Altvater B, Rossig C, Fröhling S, Hafner S, Simmet T, Åman P, Wardelmann E, Huss S, Hartmann W. FUS-DDIT3 fusion protein driven IGF-IR signaling is a therapeutic target in myxoid liposarcoma. Clin Cancer Res. 2017;  https://doi.org/10.1158/1078-0432.CCR-17-0130.
  206. 206.
    Trautmann M, Sievers E, Aretz S, Kindler D, Michels S, Friedrichs N, Renner M, Kirfel J, Steiner S, Huss S, Koch A, Penzel R, Larsson O, Kawai A, Tanaka S, Sonobe H, Waha A, Schirmacher P, Mechtersheimer G, Wardelmann E, Büttner R, Hartmann W. SS18-SSX fusion protein-induced Wnt/β-catenin signaling is a therapeutic target in synovial sarcoma. Oncogene. 2014;33(42):5006–16.CrossRefPubMedGoogle Scholar
  207. 207.
    Tsuneyoshi M, Daimaru Y, Hashimoto H, Enjoji M. Malignant soft tissue neoplasms with the histologic features of renal rhabdoid tumors: an ultrastructural and immunohistochemical study. Hum Pathol. 1985;16:1235–42.CrossRefPubMedGoogle Scholar
  208. 208.
    Ushijima M, Hashimoto H, Tsuneyoshi M, Enjoji M. Giant cell tumor of the tendon sheath (nodular tenosynovitis). A study of 207 cases to compare the large joint group with the common digit group. Cancer. 1986;57:875–84.CrossRefPubMedGoogle Scholar
  209. 209.
    van Broekhoven DL, Verhoef C, Grünhagen DJ, van Gorp JM, den Bakker MA, Hinrichs JW, de Voijs CM, van Dalen T. Prognostic value of CTNNB1 gene mutation in primary sporadic aggressive fibromatosis. Ann Surg Oncol. 2015 May;22(5):1464–70.CrossRefPubMedGoogle Scholar
  210. 210.
    van Gaal JC, Flucke UE, Roeffen MH, de Bont ES, Sleijfer S, Mavinkurve-Groothuis AM, Suurmeijer AJ, van der Graaf WT, Versleijen-Jonkers YM. Anaplastic lymphoma kinase aberrations in rhabdomyosarcoma: clinical and prognostic implications. J Clin Oncol. 2012;30:308–15.CrossRefPubMedGoogle Scholar
  211. 211.
    Vries RG, Bezrookove V, Zuijderduijn LM, Kia SK, Houweling A, Oruetxebarria I, Raap AK, Verrijzer CP. Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint. Genes Dev. 2005;19:665–70.CrossRefPubMedPubMedCentralGoogle Scholar
  212. 212.
    Walluks K, Chen Y, Woelfel C, Yang L, Cui T, Seliger C, Geier C, Knosel T, Hauke S, Petersen I. Molecular and clinicopathological analysis of dermatofibrosarcoma protuberans. Pathol Res Pract. 2013;209:30–5.CrossRefGoogle Scholar
  213. 213.
    Wang W, Evans H, Meis J, Liegl-Atzwanger B, Bovee J, Goldblum J, Billings S, Rubin B, López-Terrada D, Lazar A. FUS rearrangements are rare in ‘pure’ sclerosing epithelioid fibrosarcoma. Mod Pathol. 2012;25:846–53.CrossRefGoogle Scholar
  214. 214.
    Wang Y, Marino-Enriquez A, Bennett RR, et al. Dystrophin is a tumor suppressor in human cancers with myogenic programs. Nat Genet. 2014;46:601–6.CrossRefPubMedPubMedCentralGoogle Scholar
  215. 215.
    Wardelmann E, Biermann K, Merkelbach-Bruse S, Schildhaus H, Thomas N, Buettner R, Pietsch T, Heinicke T, Speidel N, Pink D, et al. Polyclonal resistance in gastrointestinal stromal tumor treated with sequential kinase inhibitors. Clin Cancer Res. 2006;12:6206.CrossRefGoogle Scholar
  216. 216.
    Wardelmann E, Hohenberger P, Reichardt P, Merkelbach-Bruse S, Schildhaus H, Büttner R. Gastrointestinal stromal tumors of the stomach. Updates and differences compared to other locations. For Pathol. 2010;31:195–8.Google Scholar
  217. 217.
    Wardelmann E, Hrychyk A, Merkelbach-Bruse S, Pauls K, Goldstein J, Hohenberger P, Losen I, Manegold C, Büttner R, Pietsch T. Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors. J Mol Diagn. 2004;6:197–204.CrossRefPubMedPubMedCentralGoogle Scholar
  218. 218.
    Wardelmann E, Losen I, Hans V, Neidt I, Speidel N, Bierhoff E, Heinicke T, Pietsch T, Büttner R, Merkelbach-Bruse S. Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors. Int J Cancer. 2003;106:887–95.CrossRefGoogle Scholar
  219. 219.
    Wardelmann E, Merkelbach-Bruse S, Pauls K, Thomas N, Schildhaus H, Heinicke T, Speidel N, Pietsch T, Buettner R, Pink D, et al. Polyclonal evolution of multiple secondary KIT mutations in gastrointestinal stromal tumors under treatment with imatinib mesylate. Clin Cancer Res 2006;12:1743–1749.Google Scholar
  220. 220.
    Wardelmann E, Thomas N, Merkelbach-Bruse S, Pauls K, Speidel N, Büttner R, Bihl H, Leutner C, Heinicke T, Hohenberger P. Acquired resistance to imatinib in gastrointestinal stromal tumors caused by multiple KIT mutations. Lancet Oncol. 2005;6:249–51.CrossRefGoogle Scholar
  221. 221.
    Weber-Hall S, Anderson J, McManus A, Abe S, Nojima T, Pinkerton R, Pritchard-Jones K, Shipley J. Gains, losses, and amplification of genomic material in rhabdomyosarcoma analyzed by comparative genomic hybridization. Cancer Res. 1996;56:3220–4.PubMedGoogle Scholar
  222. 222.
    West R, Corless C, Chen X, Rubin B, Subramanian S, Montgomery K, Zhu S, Ball C, Nielsen T, Patel R, et al. The novel marker, DOG1, is expressed ubiquitously in gastrointestinal stromal tumors irrespective of KIT or PDGFRA mutation status. Am J Pathol. 2004;165:107–13.CrossRefPubMedPubMedCentralGoogle Scholar
  223. 223.
    West RB, Rubin BP, Miller MA, Subramanian S, Kaygusuz G, Montgomery K, Zhu S, Marinelli RJ, De Luca A, Downs-Kelly E, et al. A landscape effect in tenosynovial giant-cell tumor from activation of CSF1 expression by a translocation in a minority of tumor cells. Proc Natl Acad Sci U S A. 2006;103:690–5.CrossRefPubMedPubMedCentralGoogle Scholar
  224. 224.
    Williams A, Bartle G, Sumathi V, Meis J, Mangham D, Grimer R, Kindblom L. Detection of ASPL/TFE3 fusion transcripts and the TFE3 antigen in formalin-fixed, paraffin-embedded tissue in a series of 18 cases of alveolar soft part sarcoma: useful diagnostic tools in cases with unusual histological features. Virchows Arch. 2011;458:291–300.CrossRefPubMedGoogle Scholar
  225. 225.
    Woelfel C, Liehr T, Weise A, Langrehr J, Kotb W, Pacyna-Gengelbach M, Katenkamp D, Petersen I. Molecular cytogenetic characterization of epithelioid hemangioendothelioma. Cancer Genet. 2011;204:671–6.CrossRefPubMedGoogle Scholar
  226. 226.
    Xia SJ, Pressey JG, Barr FG. Molecular pathogenesis of rhabdomyosarcoma. Cancer Biol Ther. 2002;1:97–104.CrossRefPubMedGoogle Scholar
  227. 227.
    Xie Y, Skytting B, Nilsson G, Brodin B, Larsson O. Expression of insulin-like growth factor-1 receptor in synovial sarcoma: association with an aggressive phenotype. Cancer Res. 1999;59:3588–91.PubMedGoogle Scholar
  228. 228.
    Zambrano E, Reyes-Mugica M, Franchi A, Rosai J. An osteoclast-rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: reports of 6 cases of a GIST simulator. Int J Surg Pathol. 2003;11:75–81.CrossRefPubMedGoogle Scholar
  229. 229.
    Zhong M, De Angelo P, Osborne L, Keane-Tarchichi M, Goldfischer M, Edelmann L, Yang Y, Linehan WM, Merino MJ, Aisner S, Hameed M. Dual-color, break-apart FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of Xp11 translocation renal cell carcinoma and alveolar soft part sarcoma. Am J Surg Pathol. 2010;34:757–66.CrossRefGoogle Scholar
  230. 230.
    Zibat A, Missiaglia E, Rosenberger A, Pritchard-Jones K, Shipley J, Hahn H, Fulda S. Activation of the hedgehog pathway confers a poor prognosis in embryonal and fusion gene-negative alveolar rhabdomyosarcoma. Oncogene. 2010;29:6323–30.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Gerhard-Domagk-Institute of PathologyUniversity Hospital MünsterMünsterGermany

Personalised recommendations