Abstract
Preoperative diagnosis of soft tissue and bone tumors using needle biopsy techniques, namely fine needle aspiration (FNA) and core needle biopsy (CNB), has gained wider acceptance in recent years. This is achieved in concert with the maturation of various image-guided needle biopsy techniques, development of molecular genetic diagnostics, and expansion of immunohistochemical biomarkers. FNA, however, as a first-line approach to evaluate soft tissue and bone tumors, remains one of the most challenging and controversial areas in cytopathology. Compared with the CNB, FNA is more suitable for smaller lesions, recurrent and/or metastatic tumors, and lesions with a broad differential diagnosis including carcinomas and lymphomas. Enhanced by rapid on-site evaluation (ROSE), and immediate tissue triage for flow cytometry and/or cytogenetic/molecular studies, FNA offers a valuable and fast diagnostic modality for lesions suspicious for high grade malignancy. This chapter focuses on the practical approaches to this extremely diverse set of benign and malignant neoplasms, emphasizing on pattern recognition, effective triage of biopsy material, and judicious use of ancillary studies. General discussion of the clinical and cytomorphologic features of each entity is beyond the scope of this diagnostic approach–orientated chapter, and the readers are directed to other relevant excellent textbooks.
Keywords
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Martin HE, Ellis EB. Biopsy by needle puncture and aspiration. Ann Surg. 1930;92(2):169–81.
Coley BL, Sharp GS, Ellis EB. Diagnosis of bone tumors by aspiration. Am J Surg. 1931;13(2):215–24.
Qian X. Soft tissue. In: Cibas ES, editor. Cytology: diagnostic principles and clinical correlates. 4th ed. Philadelphia: Elsevier; 2014. p. 471–518.
Domanski HA, Qian X, Stanley DE. Chapter 16: Bone. In: Domanski HA, editor. Atlas of fine needle aspiration cytology. 2nd ed. London: Springer; 2019.
Kilpatrick S. Diagnostic musculoskeletal surgical pathology: Saunders; 2003.
Jo VY, Qian X. Molecular diagnostics in bone and soft tissue tumors. In: Roy-Chowdhuri S, Vanderlaan PA, Stewart JM, da Cunha Santos G, editors. Molecular diagnostics in cytopathology: a practical handbook for the practicing pathologist. 1st ed. Cham, Switzerland: Springer; 2019.
Kubik MJ, Mohammadi A, Rosa M. Diagnostic benefits and cost-effectiveness of on-site imprint cytology adequacy evaluation of core needle biopsies of bone lesions. Diagn Cytopathol. 2014;42(6):506–13.
Khalbuss WE, Teot LA, Monaco SE. Diagnostic accuracy and limitations of fine-needle aspiration cytology of bone and soft tissue lesions: a review of 1114 cases with cytological-histological correlation. Cancer Cytopathol. 2010;118(1):24–32.
Fletcher CDM, Bridge J, Hogendoorn P, Mertens F, editors. World Health Organization classification of tumours. Pathology and genetics of tumours of soft tissue and bone. 4th ed. Geneva: IARC Press; 2013.
Murali R, Zarka MA, Ocal IT, Tazelaar HD. Cytologic features of epithelioid hemangioendothelioma. Am J Clin Pathol. 2011;136(5):739–46.
Baez JC, Landry JM, Saltzman JR, Qian X, Zinner MJ, Mortele KJ. Pancreatic PEComa (sugar tumor): MDCT and EUS features. JOP. 2009;10(6):679–82.
Adams SC, Potter BK, Pitcher DJ, Temple HT. Office-based core needle biopsy of bone and soft tissue malignancies: an accurate alternative to open biopsy with infrequent complications. Clin Orthop Relat Res. 2010;468(10):2774–80.
Kilpatrick SE, Cappellari JO, Bos GD, Gold SH, Ward WG. Is fine-needle aspiration biopsy a practical alternative to open biopsy for the primary diagnosis of sarcoma? Experience with 140 patients. Am J Clin Pathol. 2001;115(1):59–68.
Barrientos-Ruiz I, Ortiz-Cruz EJ, Serrano-Montilla J, Bernabeu-Taboada D, Pozo-Kreilinger JJ. Are biopsy tracts a concern for seeding and local recurrence in sarcomas? Clin Orthop Relat Res. 2017;475(2):511–8.
Van Houdt WJ, Schrijver AM, Cohen-Hallaleh RB, et al. Needle tract seeding following core biopsies in retroperitoneal sarcoma. Eur J Surg Oncol. 2017;43(9):1740–5.
Domanski HA. Sampling procedure, fine needle aspiration and core needle biopsy. In: Klijanienko J, Lagace R, editors. Soft tissue tumors. Hoboken: Wiley-Blackwell; 2011.
Dal Cin P, Qian X, Cibas ES. The marriage of cytology and cytogenetics. Cancer Cytopathol. 2013;121(6):279–90.
Chebib I, Jo VY. Application of ancillary studies in soft tissue cytology using a pattern-based approach. Cancer Cytopathol. 2018;126(Suppl 8):691–710.
Dodd LG. Update on liposarcoma: a review for cytopathologists. Diagn Cytopathol. 2012;40(12):1122–31.
Al Hmada Y, Schaefer IM, Fletcher CDM. Hibernoma mimicking atypical Lipomatous tumor: 64 cases of a morphologically distinct subset. Am J Surg Pathol. 2018;42(7):951–7.
Lemos MM, Kindblom LG, Meis-Kindblom JM, et al. Fine-needle aspiration characteristics of hibernoma. Cancer. 2001;93(3):206–10.
Domanski HA, Carlen B, Jonsson K, Mertens F, Akerman M. Distinct cytologic features of spindle cell lipoma. A cytologic-histologic study with clinical, radiologic, electron microscopic, and cytogenetic correlations. Cancer. 2001;93(6):381–9.
Ferreira J, Esteves G, Fonseca R, Martins C, Andre S, Lemos MM. Fine-needle aspiration of lipoblastoma: cytological, molecular, and clinical features. Cancer Cytopathol. 2017;125(12):934–9.
Gisselsson D, Domanski HA, Hoglund M, et al. Unique cytological features and chromosome aberrations in chondroid lipoma: a case report based on fine-needle aspiration cytology, histopathology, electron microscopy, chromosome banding, and molecular cytogenetics. Am J Surg Pathol. 1999;23(10):1300–4.
Dey P. Fine needle aspiration cytology of well-differentiated liposarcoma. A report of two cases. Acta Cytol. 2000;44(3):459–62.
Klijanienko J, Caillaud JM, Lagace R. Fine-needle aspiration in liposarcoma: cytohistologic correlative study including well-differentiated, myxoid, and pleomorphic variants. Diagn Cytopathol. 2004;30(5):307–12.
Dodd LG, Sara Jiang X, Rao K, Bui MM. Pleomorphic liposarcoma: a cytologic study of five cases. Diagn Cytopathol. 2015;43(2):138–43.
Marino-Enriquez A, Hornick JL, Dal Cin P, Cibas ES, Qian X. Dedifferentiated liposarcoma and pleomorphic liposarcoma: a comparative study of cytomorphology and MDM2/CDK4 expression on fine-needle aspiration. Cancer Cytopathol. 2014;122(2):128–37.
Zhou H, Guo M, Gong Y. Challenge of FNA diagnosis of angiomyolipoma: a study of 33 cases. Cancer Cytopathol. 2017;125(4):257–66.
Collins K, Buckley T, Anderson K, Karasik M, Ligato S. Perivascular Epithelioid Cell Tumor (PEComa) of pancreas diagnosed preoperatively by endoscopic ultrasound-guided fine-needle aspiration: a case report and review of literature. Diagn Cytopathol. 2017;45(1):59–65.
Skorpil M, Tani E, Blomqvist L. Presacral myelolipoma in a patient with rectal cancer: diagnosis by magnetic resonance imaging and aspiration cytology. Acta Radiol. 2007;48(10):1049–51.
Lee JC, Fletcher CD. Malignant fat-forming solitary fibrous tumor (so-called “lipomatous hemangiopericytoma”): clinicopathologic analysis of 14 cases. Am J Surg Pathol. 2011;35(8):1177–85.
Tani E, Wejde J, Astrom K, Wingmo IL, Larsson O, Haglund F. FNA cytology of solitary fibrous tumors and the diagnostic value of STAT6 immunocytochemistry. Cancer. 2018;126(1):36–43.
Domanski HA. Fine-needle aspiration smears from lipomatous hemangiopericytoma need not be confused with myxoid liposarcoma. Diagn Cytopathol. 2003;29(5):287–91.
Dash RC, Liu K, Sheafor DH, Dodd LG. Fine-needle aspiration findings in idiopathic retroperitoneal fibrosis. Diagn Cytopathol. 1999;21(1):22–6.
Jadusingh IH. Fine needle aspiration cytology of fibrous hamartoma of infancy. Acta Cytol. 1997;41(4 Suppl):1391–3.
Morency E, Laskin W, Lin X. Cytologic and histologic features of pleomorphic undifferentiated sarcoma arising in a hybrid Hemosiderotic Fibrolipomatous tumor and pleomorphic Hyalinizing Angiectatic tumor: report of an unusual case with a literature review. Acta Cytol. 2015;59(6):493–7.
Marino-Enriquez A, Fletcher CD, Dal Cin P, Hornick JL. Dedifferentiated liposarcoma with “homologous” lipoblastic (pleomorphic liposarcoma-like) differentiation: clinicopathologic and molecular analysis of a series suggesting revised diagnostic criteria. Am J Surg Pathol. 2010;34(8):1122–31.
Chen BJ, Marino-Enriquez A, Fletcher CD, Hornick JL. Loss of retinoblastoma protein expression in spindle cell/pleomorphic lipomas and cytogenetically related tumors: an immunohistochemical study with diagnostic implications. Am J Surg Pathol. 2012;36(8):1119–28.
Wei S, Henderson-Jackson E, Qian X, Bui MM. Soft tissue tumor immunohistochemistry update: illustrative examples of diagnostic pearls to avoid pitfalls. Arch Pathol Lab Med. 2017;141(8):1072–91.
Doyle LA, Vivero M, Fletcher CD, Mertens F, Hornick JL. Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics. Modern Pathol. 2014;27(3):390–5.
Binh MB, Sastre-Garau X, Guillou L, et al. MDM2 and CDK4 immunostainings are useful adjuncts in diagnosing well-differentiated and dedifferentiated liposarcoma subtypes: a comparative analysis of 559 soft tissue neoplasms with genetic data. Am J Surg Pathol. 2005;29(10):1340–7.
Clay MR, Martinez AP, Weiss SW, Edgar MA. MDM2 and CDK4 immunohistochemistry: should it be used in problematic differentiated Lipomatous tumors?: a new perspective. Am J Surg Pathol. 2016;40(12):1647–52.
Dujardin F, Binh MB, Bouvier C, et al. MDM2 and CDK4 immunohistochemistry is a valuable tool in the differential diagnosis of low-grade osteosarcomas and other primary fibro-osseous lesions of the bone. Mod Pathol. 2011;24(5):624–37.
Anderson WJ, Hornick JL. Immunohistochemical correlates of recurrent genetic alterations in sarcomas. Genes Chromosomes Cancer. 2019;58(2):111–23.
Sioletic S, Dal Cin P, Fletcher CD, Hornick JL. Well-differentiated and dedifferentiated liposarcomas with prominent myxoid stroma: analysis of 56 cases. Histopathology. 2013;62(2):287–93.
Weaver J, Rao P, Goldblum JR, et al. Can MDM2 analytical tests performed on core needle biopsy be relied upon to diagnose well-differentiated liposarcoma? Mod Pathol. 2010;23(10):1301–6.
Wakely PE Jr, Bos GD, Mayerson J. The cytopathology of soft tissue mxyomas: ganglia, juxta-articular myxoid lesions, and intramuscular myxoma. Am J Clin Pathol. 2005;123(6):858–65.
Yang EJ, Hornick JL, Qian X. Fine-needle aspiration of soft tissue perineurioma: a comparative analysis of cytomorphology and immunohistochemistry with benign and malignant mimics. Cancer Cytopathol. 2016;124(9):651–8.
Minami R, Yamamoto T, Tsukamoto R, Maeda S. Fine needle aspiration cytology of the malignant variant of ossifying fibromyxoid tumor of soft parts: a case report. Acta Cytol. 2001;45(5):745–55.
Wang G, Tucker T, Ng TL, Villamil CF, Hayes MM. Fine-needle aspiration of soft tissue myoepithelioma. Diagn Cytopathol. 2016;44(2):152–5.
Marino-Enriquez A, Nascimento AF, Ligon AH, Liang C, Fletcher CD. Atypical spindle cell Lipomatous tumor: clinicopathologic characterization of 232 cases demonstrating a morphologic Spectrum. Am J Surg Pathol. 2017;41(2):234–44.
Willems SM, Mohseny AB, Balog C, et al. Cellular/intramuscular myxoma and grade I myxofibrosarcoma are characterized by distinct genetic alterations and specific composition of their extracellular matrix. J Cell Mol Med. 2009;13(7):1291–301.
Colin P, Lagace R, Caillaud JM, Sastre-Garau X, Klijanienko J. Fine-needle aspiration in myxofibrosarcoma: experience of Institut Curie. Diagn Cytopathol. 2010;38(5):343–6.
Olson MT, Ali SZ. Myxofibrosarcoma: cytomorphologic findings and differential diagnosis on fine needle aspiration. Acta Cytol. 2012;56(1):15–24.
Domanski HA, Mertens F, Panagopoulos I, Akerman M. Low-grade fibromyxoid sarcoma is difficult to diagnose by fine needle aspiration cytology: a cytomorphological study of eight cases. Cytopathology. 2009;20(5):304–14.
Jakowski JD, Wakely PE Jr. Cytopathology of extraskeletal myxoid chondrosarcoma: report of 8 cases. Cancer. 2007;111(5):298–305.
Santos F, Martins C, Lemos MM. Fine-needle aspiration features of extraskeletal myxoid chondrosarcoma: a study of cytological and molecular features. Diagn Cytopathol. 2018;46(11):950–7.
Wickham MQ, Youens KE, Dodd LG. Acral myxoinflammatory fibroblastic sarcoma fine needle aspiration: a case report. Diagn Cytopathol. 2012;40(Suppl 2):E144–8.
Domanski HA, Akerman M, Engellau J, Gustafson P, Mertens F, Rydholm A. Fine-needle aspiration of neurilemoma (schwannoma). A clinicocytopathologic study of 116 patients. Diagn Cytopathol. 2006;34(6):403–12.
Klijanienko J, Caillaud JM, Lagace R. Cytohistologic correlations in schwannomas (neurilemmomas), including “ancient,” cellular, and epithelioid variants. Diagn Cytopathol. 2006;34(8):517–22.
Lee JC, Wu JM, Liau JY, et al. Cytopathologic features of epithelioid inflammatory myofibroblastic sarcoma with correlation of histopathology, immunohistochemistry, and molecular cytogenetic analysis. Cancer Cytopathol. 2015;123(8):495–504.
Doyle LA, Wang WL, Dal Cin P, et al. MUC4 is a sensitive and extremely useful marker for sclerosing epithelioid fibrosarcoma: association with FUS gene rearrangement. Am J Surg Pathol. 2012;36(10):1444–51.
Flucke U, Tops BB, Verdijk MA, et al. NR4A3 rearrangement reliably distinguishes between the clinicopathologically overlapping entities myoepithelial carcinoma of soft tissue and cellular extraskeletal myxoid chondrosarcoma. Virchows Arch. 2012;460(6):621–8.
Downs-Kelly E, Goldblum JR, Patel RM, et al. The utility of fluorescence in situ hybridization (FISH) in the diagnosis of myxoid soft tissue neoplasms. Am J Surg Pathol. 2008;32(1):8–13.
Domanski HA, Gustafson P. Cytologic features of primary, recurrent, and metastatic dermatofibrosarcoma protuberans. Cancer. 2002;96(6):351–61.
Evans HL. Low-grade fibromyxoid sarcoma. A report of two metastasizing neoplasms having a deceptively benign appearance. Am J Clin Pathol. 1987;88(5):615–9.
Guillou L, Benhattar J, Gengler C, 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(9):1387–402.
Huang HY, Lal P, Qin J, Brennan MF, Antonescu CR. Low-grade myxofibrosarcoma: a clinicopathologic analysis of 49 cases treated at a single institution with simultaneous assessment of the efficacy of 3-tier and 4-tier grading systems. Hum Pathol. 2004;35(5):612–21.
Oda Y, Takahira T, Kawaguchi K, et al. Low-grade fibromyxoid sarcoma versus low-grade myxofibrosarcoma in the extremities and trunk. A comparison of clinicopathological and immunohistochemical features. Histopathology. 2004;45(1):29–38.
Nasrallah MP, Nasrallah IM, Yu GH. Fine-needle aspiration of superficial myxoid neurofibroma in the region of the breast. Diagn Cytopathol. 2015;43(5):427–31.
Allison DB, Wakely PE Jr, Siddiqui MT, Ali SZ. Nodular fasciitis: a frequent diagnostic pitfall on fine-needle aspiration. Cancer Cytopathol. 2017;125(1):20–9.
Tao LC, Davidson DD. Aspiration biopsy cytology of smooth muscle tumors. A cytologic approach to the differentiation between leiomyosarcoma and leiomyoma. Acta Cytol. 1993;37(3):300–8.
Rohit M, Bhatt A, Cruise M, Wearsch PA, Goldblum JR, Sturgis CD. Endoscopic ultrasound FNA: an illustrated review of spindle cell neoplasms of the upper gastrointestinal tract including a novel case of gastric plexiform fibromyxoma. Diagn Cytopathol. 2018;46(9):730–8.
Domanski HA, Carlen B, Sloth M, Rydholm A. Elastofibroma dorsi has distinct cytomorphologic features, making diagnostic surgical biopsy unnecessary: cytomorphologic study with clinical, radiologic, and electron microscopic correlations. Diagn Cytopathol. 2003;29(6):327–33.
Owens CL, Sharma R, Ali SZ. Deep fibromatosis (desmoid tumor): cytopathologic characteristics, clinicoradiologic features, and immunohistochemical findings on fine-needle aspiration. Cancer. 2007;111(3):166–72.
Rege TA, Madan R, Qian X. Long fascicular tissue fragments in desmoid fibromatosis by fine needle aspiration: a new cytologic feature. Diagn Cytopathol. 2012;40(1):45–7.
Stoll LM, Li QK. Cytology of fine-needle aspiration of inflammatory myofibroblastic tumor. Diagn Cytopathol. 2011;39(9):663–72.
Klijanienko J, Caillaud JM, Lagace R. Fine-needle aspiration of primary and recurrent dermatofibrosarcoma protuberans. Diagn Cytopathol. 2004;30(4):261–5.
Clayton AC, Salomao DR, Keeney GL, Nascimento AG. Solitary fibrous tumor: a study of cytologic features of six cases diagnosed by fine-needle aspiration. Diagn Cytopathol. 2001;25(3):172–6.
Domanski HA, Akerman M, Rissler P, Gustafson P. Fine-needle aspiration of soft tissue leiomyosarcoma: an analysis of the most common cytologic findings and the value of ancillary techniques. Diagn Cytopathol. 2006;34(9):597–604.
McGee RS Jr, Ward WG, Kilpatrick SE. Malignant peripheral nerve sheath tumor: a fine-needle aspiration biopsy study. Diagn Cytopathol. 1997;17(4):298–305.
Wakely PE Jr, Ali SZ, Bishop JA. The cytopathology of malignant peripheral nerve sheath tumor : a report of 55 fine-needle aspiration cases. Cancer Cytopathol. 2012;120(5):334–41.
Kilpatrick SE, Teot LA, Stanley MW, Ward WG, Savage PD, Geisinger KR. Fine-needle aspiration biopsy of synovial sarcoma. A cytomorphologic analysis of primary, recurrent, and metastatic tumors. Am J Clin Pathol. 1996;106(6):769–75.
Klijanienko J, Caillaud JM, Lagace R, Vielh P. Cytohistologic correlations in 56 synovial sarcomas in 36 patients: the Institut Curie experience. Diagn Cytopathol. 2002;27(2):96–102.
Cantley RL, Cimbaluk D, Reddy V, Iacusso C, Gattuso P. Fine-needle aspiration diagnosis of a metastatic adult sclerosing rhabdomyosarcoma in a lymph node. Diagn Cytopathol. 2010;38(10):761–4.
Fletcher C, Bridge JA, Hogendoorn PCW, Mertens F. WHO classification of tumours of soft tissue and bone. Lyon: IARC Press; 2013.
Brown FM, Fletcher CD. Problems in grading soft tissue sarcomas. Am J Clin Pathol. 2000;114(Suppl):S82–9.
Palmer HE, Mukunyadzi P, Culbreth W, Thomas JR. Subgrouping and grading of soft-tissue sarcomas by fine-needle aspiration cytology: a histopathologic correlation study. Diagn Cytopathol. 2001;24(5):307–16.
Roitman PD, Farfalli GL, Ayerza MA, Muscolo DL, Milano FE, Aponte-Tinao LA. Is needle biopsy clinically useful in preoperative grading of central chondrosarcoma of the pelvis and long bones? Clin Orthop Relat Res. 2017;475(3):808–14.
Guiter GE, Gamboni MM, Zakowski MF. The cytology of extraskeletal Ewing sarcoma. Cancer. 1999;87(3):141–8.
Klijanienko J, Couturier J, Bourdeaut F, et al. Fine-needle aspiration as a diagnostic technique in 50 cases of primary Ewing sarcoma/peripheral neuroectodermal tumor. Institut Curie’s experience. Diagn Cytopathol. 2012;40(1):19–25.
Russell-Goldman E, Hornick JL, Qian X, Jo VY. NKX2.2 immunohistochemistry in the distinction of Ewing sarcoma from cytomorphologic mimics: diagnostic utility and pitfalls. Cancer Cytopathol. 2018;126(11):942–9.
Crapanzano JP, Cardillo M, Lin O, Zakowski MF. Cytology of desmoplastic small round cell tumor. Cancer. 2002;96(1):21–31.
Leca LB, Vieira J, Teixeira MR, Monteiro P. Desmoplastic small round cell tumor: diagnosis by fine-needle aspiration cytology. Acta Cytol. 2012;56(5):576–80.
Klijanienko J, Colin P, Couturier J, et al. Fine-needle aspiration in desmoplastic small round cell tumor: a report of 10 new tumors in 8 patients with clinicopathological and molecular correlations with review of the literature. Cancer Cytopathol. 2014;122(5):386–93.
Seidal T, Walaas L, Kindblom LG, Angervall L. Cytology of embryonal rhabdomyosarcoma: a cytologic, light microscopic, electron microscopic, and immunohistochemical study of seven cases. Diagn Cytopathol. 1988;4(4):292–9.
Udayakumar AM, Sundareshan TS, Appaji L, Biswas S, Mukherjee G. Rhabdomyosarcoma: cytogenetics of five cases using fine-needle aspiration samples and review of the literature. Ann Genet. 2002;45(1):33–7.
de Almeida M, Stastny JF, Wakely PE Jr, Frable WJ. Fine-needle aspiration biopsy of childhood rhabdomyosarcoma: reevaluation of the cytologic criteria for diagnosis. Diagn Cytopathol. 1994;11(3):231–6.
Valencerina Gopez E, Dauterman J, Layfield LJ. Fine-needle aspiration biopsy of alveolar rhabdomyosarcoma of the parotid: a case report and review of the literature. Diagn Cytopathol. 2001;24(4):249–52.
Chebib I, Jo VY. Round cell sarcoma with CIC-DUX4 gene fusion: discussion of the distinctive cytomorphologic, immunohistochemical, and molecular features in the differential diagnosis of round cell tumors. Cancer Cytopathol. 2016;124(5):350–61.
Kao YC, Owosho AA, Sung YS, et al. BCOR-CCNB3 fusion positive sarcomas: a clinicopathologic and molecular analysis of 36 cases with comparison to morphologic spectrum and clinical behavior of other round cell sarcomas. Am J Surg Pathol. 2018;42(5):604–15.
Silverman JF, Landreneau RJ, Sturgis CD, et al. Small-cell variant of synovial sarcoma: fine-needle aspiration with ancillary features and potential diagnostic pitfalls. Diagn Cytopathol. 2000;23(2):118–23.
Ali RH, Lee CH, Hayes MM. Metastatic small cell osteosarcoma to the liver: a diagnostic pitfall for fine-needle aspiration cytology. Diagn Cytopathol. 2014;42(2):161–4.
Bishop JA, Shum CH, Sheth S, Wakely PE Jr, Ali SZ. Small cell osteosarcoma: cytopathologic characteristics and differential diagnosis. Am J Clin Pathol. 2010;133(5):756–61.
Trembath DG, Dash R, Major NM, Dodd LG. Cytopathology of mesenchymal chondrosarcomas: a report and comparison of four patients. Cancer. 2003;99(4):211–6.
Szadowska A, Lasota J. Fine needle aspiration cytology of myxoid liposarcoma; a study of 18 tumours. Cytopathology. 1993;4(2):99–106.
Shield PW, Crous H. Fine-needle aspiration cytology of Merkel cell carcinoma-a review of 69 cases. Diagn Cytopathol. 2014;42(11):924–8.
Cipolletta Campanile A, Malzone MG, Sanna V, et al. Cytological and immunocytochemical features of Merkel cell carcinoma on fine needle cytology samples: a study of 22 cases. Endocr Pathol. 2015;26(3):243–9.
Ojha SS, Kothari KS, Naik LP, Fernandes GC, Rangwala S, Agnihotri MA. Dysplastic megakaryocytes and eosinophilic precursors in the diagnosis of myeloid sarcoma on lymph node fine-needle aspiration cytology: a case series. Acta Cytol. 2012;56(3):325–9.
Bishop JA, French CA, Ali SZ. Cytopathologic features of NUT midline carcinoma: a series of 26 specimens from 13 patients. Cancer Cytopathol. 2016;124(12):901–8.
Thiesse P, Hany MA, Combaret V, Ranchere-Vince D, Bouffet E, Bergeron C. Assessment of percutaneous fine needle aspiration cytology as a technique to provide diagnostic and prognostic information in neuroblastoma. Eur J Cancer. 2000;36(12):1544–51.
Al-Za’abi AM, Boerner SL, Geddie WB. Fine needle aspiration cytology of a differentiated neuroblastoma presenting as a scalp lesion in an adult: a case report. Diagn Cytopathol. 2008;36(2):133–5.
Hall BJ, Schmidt RL, Sharma RR, Layfield LJ. Fine-needle aspiration cytology for the diagnosis of metastatic melanoma: systematic review and meta-analysis. Am J Clin Pathol. 2013;140(5):635–42.
Fernandez-Pineda I, Cabello R, Garcia-Canton JA, et al. Fine-needle aspiration cytopathology in the diagnosis of Wilms tumor. Clin Transl Oncol. 2011;13(11):809–11.
Szuhai K, de Jong D, Leung WY, Fletcher CD, Hogendoorn PC. Transactivating mutation of the MYOD1 gene is a frequent event in adult spindle cell rhabdomyosarcoma. J Pathol. 2014;232(3):300–7.
Foo WC, Cruise MW, Wick MR, Hornick JL. Immunohistochemical staining for TLE1 distinguishes synovial sarcoma from histologic mimics. Am J Clin Pathol. 2011;135(6):839–44.
Arnold MA, Schoenfield L, Limketkai BN, Arnold CA. Diagnostic pitfalls of differentiating desmoplastic small round cell tumor (DSRCT) from Wilms tumor (WT): overlapping morphologic and immunohistochemical features. Am J Surg Pathol. 2014;38(9):1220–6.
Hung YP, Fletcher CD, Hornick JL. Evaluation of ETV4 and WT1 expression in CIC-rearranged sarcomas and histologic mimics. Mod Pathol. 2016;29(11):1324–34.
Conner JR, Hornick JL. SATB2 is a novel marker of osteoblastic differentiation in bone and soft tissue tumours. Histopathology. 2013;63(1):36–49.
Machado I, Navarro S, Picci P, Llombart-Bosch A. The utility of SATB2 immunohistochemical expression in distinguishing between osteosarcomas and their malignant bone tumor mimickers, such as Ewing sarcomas and chondrosarcomas. Pathol Res Pract. 2016;212(9):811–6.
Bridge JA, Fidler ME, Neff JR, et al. Adamantinoma-like Ewing’s sarcoma: genomic confirmation, phenotypic drift. Am J Surg Pathol. 1999;23(2):159–65.
Lilo MT, Bishop JA, Olson MT, Ali SZ. Adamantinoma-like Ewing sarcoma of the parotid gland: cytopathologic findings and differential diagnosis. Diagn Cytopathol. 2018;46(3):263–6.
Thway K, Fisher C. Mesenchymal tumors with EWSR1 gene rearrangements. Surg Pathol Clin. 2019;12(1):165–90.
Wieczorek TJ, Krane JF, Domanski HA, et al. Cytologic findings in granular cell tumors, with emphasis on the diagnosis of malignant granular cell tumor by fine-needle aspiration biopsy. Cancer. 2001;93(6):398–408.
Gu M, Nguyen PT, Cao S, Lin F. Diagnosis of gastric glomus tumor by endoscopic ultrasound-guided fine needle aspiration biopsy. A case report with cytologic, histologic and immunohistochemical studies. Acta Cytol. 2002;46(3):560–6.
Rau AR, Kini H, Verghese R. Tigroid background in fine-needle aspiration cytology of clear cell sarcoma. Diagn Cytopathol. 2006;34(5):355–7.
Cardillo M, Zakowski MF, Lin O. Fine-needle aspiration of epithelioid sarcoma: cytology findings in nine cases. Cancer. 2001;93(4):246–51.
Wakely PE Jr, McDermott JE, Ali SZ. Cytopathology of alveolar soft part sarcoma: a report of 10 cases. Cancer. 2009;117(6):500–7.
Akhtar M, Kfoury H, Haider A, Sackey K, Ali MA. Fine-needle aspiration biopsy diagnosis of extrarenal malignant rhabdoid tumor. Diagn Cytopathol. 1994;11(3):271–6.
Janovitz T, Sholl LM, Qian X. Cytopathologic features of SMARCA4-deficient neoplasms (abstract). Mod Pathol. 2019; 132:1–138
Sauter JL, Graham RP, Larsen BT, Jenkins SM, Roden AC, Boland JM. SMARCA4-deficient thoracic sarcoma: a distinctive clinicopathological entity with undifferentiated rhabdoid morphology and aggressive behavior. Mod Pathol. 2017;30(10):1422–32.
Evans HL, Raymond AK, Ayala AG. Vascular tumors of bone: a study of 17 cases other than ordinary hemangioma, with an evaluation of the relationship of hemangioendothelioma of bone to epithelioid hemangioma, epithelioid hemangioendothelioma, and high-grade angiosarcoma. Hum Pathol. 2003;34(7):680–9.
Baehner F, Sudilovsky D. Fine needle aspiration cytology of intraoral epithelioid hemangioma. A report of two cases. Acta Cytol. 2003;47(2):275–80.
Kilpatrick SE, Koplyay PD, Ward WG, Richards F 2nd. Epithelioid hemangioendothelioma of bone and soft tissue: a fine-needle aspiration biopsy study with histologic and immunohistochemical confirmation. Diagn Cytopathol. 1998;19(1):38–43.
Wakely PE Jr, Frable WJ, Kneisl JS. Aspiration cytopathology of epithelioid angiosarcoma. Cancer. 2000;90(4):245–51.
Pohar-Marinsek Z, Lamovec J. Angiosarcoma in FNA smears: diagnostic accuracy, morphology, immunocytochemistry and differential diagnoses. Cytopathology. 2010;21(5):311–9.
Hornick JL, Fletcher CD. Pseudomyogenic hemangioendothelioma: a distinctive, often multicentric tumor with indolent behavior. Am J Surg Pathol. 2011;35(2):190–201.
Pradhan D, Schoedel K, McGough RL, Ranganathan S, Rao UNM. Pseudomyogenic hemangioendothelioma of skin, bone and soft tissue-a clinicopathological, immunohistochemical, and fluorescence in situ hybridization study. Hum Pathol. 2018;71:126–34.
Doyle LA, Nelson D, Heinrich MC, Corless CL, Hornick JL. Loss of succinate dehydrogenase subunit B (SDHB) expression is limited to a distinctive subset of gastric wild-type gastrointestinal stromal tumours: a comprehensive genotype-phenotype correlation study. Histopathology. 2012;61(5):801–9.
Dodd LG, Scully S, Layfield LJ. Fine-needle aspiration of epithelioid malignant peripheral nerve sheath tumor (epithelioid malignant schwannoma). Diagn Cytopathol. 1997;17(3):200–4.
Jiwani S, Gokden M, Lindberg M, Ali S, Jeffus S. Fine-needle aspiration cytology of epithelioid malignant peripheral nerve sheath tumor: a case report and review of the literature. Diagn Cytopathol. 2016;44(3):226–31.
Park IA, Kim JS, Ham EK. Fine needle aspiration cytology of gastric epithelioid leiomyosarcoma metastasized to the liver. A case report. Acta Cytol. 1997;41(6):1801–6.
Weber MH, Kilpatrick SE, Bergman S. The cytologic diagnosis of epithelioid myxofibrosarcoma: a case report. Diagn Cytopathol. 2012;40(Suppl 2):E140–3.
Doyle LA, Fletcher CD, Hornick JL. Nuclear expression of CAMTA1 distinguishes epithelioid hemangioendothelioma from histologic mimics. Am J Surg Pathol. 2016;40(1):94–102.
Argani P, Aulmann S, Illei PB, et al. A distinctive subset of PEComas harbors TFE3 gene fusions. Am J Surg Pathol. 2010;34(10):1395–406.
Antonescu CR, Le Loarer F, Mosquera JM, et al. Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma. Genes Chromosomes Cancer. 2013;52(8):775–84.
Chamberlain BK, McClain CM, Gonzalez RS, Coffin CM, Cates JM. Alveolar soft part sarcoma and granular cell tumor: an immunohistochemical comparison study. Hum Pathol. 2014;45(5):1039–44.
Hung YP, Fletcher CD, Hornick JL. FOSB is a useful diagnostic marker for Pseudomyogenic Hemangioendothelioma. Am J Surg Pathol. 2017;41(5):596–606.
Ortins-Pina A, Llamas-Velasco M, Turpin S, Soares-de-Almeida L, Filipe P, Kutzner H. FOSB immunoreactivity in endothelia of epithelioid hemangioma (angiolymphoid hyperplasia with eosinophilia). J Cutan Pathol. 2018;45(6):395–402.
Marino-Enriquez A, Wang WL, Roy A, et al. Epithelioid inflammatory myofibroblastic sarcoma: an aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK. Am J Surg Pathol. 2011;35(1):135–44.
Hollmann TJ, Hornick JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol. 2011;35(10):e47–63.
Hornick JL. Introduction: tumor classification and immunohistochemistry. In: Hornick JL, editor. Practical soft tissue pathology: a diagnostic approach. 2nd ed. Philadelphia: Elsevier; 2019. p. 1–14.
Horvai A, Dashti NK, Rubin BP, et al. Genetic and molecular reappraisal of spindle cell adamantinoma of bone reveals a small subset of misclassified intraosseous synovial sarcoma. Mod Pathol. 2019;32(2):231–41.
Zhang Y, Paz Mejia A, Temple HT, Trent J, Rosenberg AE. Squamous cell carcinoma arising in dedifferentiated chondrosarcoma proved by isocitrate dehydrogenase mutation analysis. Hum Pathol. 2014;45(7):1541–5.
Xie J, Pu C, Silverman JF. Fine-needle aspiration cytology of intranodal palisaded myofibroblastoma of the inguinal lymph node. Acta Cytol. 2016;60(1):89–92.
Hornick JL. Subclassification of pleomorphic sarcomas: how and why should we care? Ann Diagn Pathol. 2018;37:118–24.
Carvalho SD, Pissaloux D, Crombe A, Coindre JM, Le Loarer F. Pleomorphic sarcomas: the state of the art. Surg Pathol Clin. 2019;12(1):63–105.
Lopez-Rios F, Alberti N, Perez-Barrios A, de Agustin PP. Fine-needle aspiration of pleomorphic lipoma. Diagn Cytopathol. 2001;24(4):296–7.
Klijanienko J, Caillaud JM, Lagace R, Vielh P. Fine-needle aspiration of leiomyosarcoma: a correlative cytohistopathological study of 96 tumors in 68 patients. Diagn Cytopathol. 2003;28(3):119–25.
Pohar-Marinsek Z, Bracko M. Rhabdomyosarcoma. Cytomorphology, subtyping and differential diagnostic dilemmas. Acta Cytol. 2000;44(4):524–32.
Klijanienko J, Caillaud JM, Orbach D, et al. Cyto-histological correlations in primary, recurrent and metastatic rhabdomyosarcoma: the Institut Curie’s experience. Diagn Cytopathol. 2007;35(8):482–7.
Nicol KK, Ward WG, Savage PD, Kilpatrick SE. Fine-needle aspiration biopsy of skeletal versus extraskeletal osteosarcoma. Cancer. 1998;84(3):176–85.
Klijanienko J, Caillaud JM, Lagace R, Vielh P. Cytohistologic correlations in angiosarcoma including classic and epithelioid variants: Institut Curie’s experience. Diagn Cytopathol. 2003;29(3):140–5.
Rinas AC, Ward WG, Kilpatrick SE. Potential sampling error in fine needle aspiration biopsy of dedifferentiated chondrosarcoma: a report of 4 cases. Acta Cytol. 2005;49(5):554–9.
Olson MT, Wakely PE Jr, Weber K, Siddiqui MT, Ali SZ. Postradiation sarcoma: morphological findings on fine-needle aspiration with clinical correlation. Cancer Cytopathol. 2012;120(5):351–7.
Fanning CV, Sneige NS, Carrasco CH, Ayala AG, Murray JA, Raymond AK. Fine needle aspiration cytology of chondroblastoma of bone. Cancer. 1990;65(8):1847–63.
Kilpatrick SE, Pike EJ, Geisinger KR, Ward WG. Chondroblastoma of bone: use of fine-needle aspiration biopsy and potential diagnostic pitfalls. Diagn Cytopathol. 1997;16(1):65–71.
VandenBussche CJ, Sathiyamoorthy S, Wakely PE Jr, Ali SZ. Chondroblastic osteosarcoma: cytomorphologic characteristics and differential diagnosis on FNA. Cancer Cytopathol. 2016;124(7):493–500.
Schaefer IM, Fletcher JA, Nielsen GP, et al. Immunohistochemistry for histone H3G34W and H3K36M is highly specific for giant cell tumor of bone and chondroblastoma, respectively, in FNA and core needle biopsy. Cancer Cytopathol. 2018;126(8):552–66.
Huang EC, Ghazikhanian V, Qian X. Giant cell-rich osteosarcoma of the parotid gland: an exceptionally rare entity at an unusual site. Diagn Cytopathol. 2016;44(12):1107–11.
Cardona DM, Dodd LG. Bone cytology: a realistic approach for clinical use. Surg Pathol Clin. 2012;5(1):79–100.
Kilpatrick SE. Fine needle aspiration biopsy of Langerhans cell histiocytosis of bone: are ancillary studies necessary for a “definitive diagnosis”? Acta Cytol. 1998;42(3):820–3.
Shanmugam V, Craig JW, Hornick JL, Morgan EA, Pinkus GS, Pozdnyakova O. Cyclin D1 is expressed in neoplastic cells of Langerhans cell histiocytosis but not reactive Langerhans cell proliferations. Am J Surg Pathol. 2017;41(10):1390–6.
Walaas L, Kindblom LG. Fine-needle aspiration biopsy in the preoperative diagnosis of chordoma: a study of 17 cases with application of electron microscopic, histochemical, and immunocytochemical examination. Hum Pathol. 1991;22(1):22–8.
Layfield LJ, Liu K, Dodd LG, Olatidoye BA. “Dedifferentiated” chordoma: a case report of the cytomorphologic findings on fine-needle aspiration. Diagn Cytopathol. 1998;19(5):378–81.
Kay PA, Nascimento AG, Unni KK, Salomao DR. Chordoma. Cytomorphologic findings in 14 cases diagnosed by fine needle aspiration. Acta Cytol. 2003;47(2):202–8.
Jo VY, Hornick JL, Qian X. Utility of brachyury in distinction of chordoma from cytomorphologic mimics in fine-needle aspiration and core needle biopsy. Diagn Cytopathol. 2014;42(8):647–52.
Nicol KK, Ward WG, Pike EJ, Geisinger KR, Cappellari JO, Kilpatrick SE. Fine-needle aspiration biopsy of gouty tophi: lessons in cost-effective patient management. Diagn Cytopathol. 1997;17(1):30–5.
Bhadani PP, Sah SP, Sen R, Singh RK. Diagnostic value of fine needle aspiration cytology in gouty tophi: a report of 7 cases. Acta Cytol. 2006;50(1):101–4.
O’Connor SM, Wobker SE, Cardona DM, Eward W, Esther RJ, Dodd LG. Iatrogenic lesions of soft tissue and bone. Semin Diagn Pathol. 2017;35(4):208–17.
Catelas I, Lehoux EA, Ning Z, Figeys D, Baskey SJ, Beaule PE. Differential proteomic analysis of synovial fluid from hip arthroplasty patients with a pseudotumor vs. Periprosthetic osteolysis. J Orthop Res. 2018;36(7):1849–59.
Agarwal S, Nangia A, Jyotsna PL, Pujani M. Spindle cell lipoma masquerading as lipomatous pleomorphic adenoma: a diagnostic dilemma on fine needle aspiration cytology. J Cytol. 2013;30(1):55–7.
Berry AB, Jaffee I, Greenberg M, Eisele DW, Ljung BM. Nodular fasciitis: definitive diagnosis by fine needle aspiration. Acta Cytol. 2016;60(1):19–24.
Erickson-Johnson MR, Chou MM, Evers BR, et al. Nodular fasciitis: a novel model of transient neoplasia induced by MYH9-USP6 gene fusion. Lab Invest. 2011;91(10):1427–33.
Deshpande V, Rosenberg AE, O’Connell JX, Nielsen GP. Epithelioid angiosarcoma of the bone: a series of 10 cases. Am J Surg Pathol. 2003;27(6):709–16.
Verbeke SL, Bertoni F, Bacchini P, et al. Distinct histological features characterize primary angiosarcoma of bone. Histopathology. 2011;58(2):254–64.
Malini K, Gudi NS, Kutty AV, Balakrishna S. Mutational analysis of exostosin 1 and 2 genes in multiple osteochondroma. Indian J Pediatr. 2015;82(7):649–50.
Crapanzano JP, Ali SZ, Ginsberg MS, Zakowski MF. Chordoma: a cytologic study with histologic and radiologic correlation. Cancer. 2001;93(1):40–51.
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Qian, X., Zhang, Y. (2020). Soft Tissue and Bone. In: Xu, H., Qian, X., Wang, H. (eds) Practical Cytopathology . Practical Anatomic Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-24059-2_17
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