Virchows Archiv

, Volume 472, Issue 3, pp 499–503 | Cite as

Metastatic malignant PEComa of the leg with identification of ATRX mutation by next-generation sequencing

  • Hussein Alnajar
  • Arlen Brickman
  • Lela Buckingham
  • Leonidas D. Arvanitis
Brief Report

Notes

Compliance with ethical standards

Case reports are not considered to “not human subjects research” (NHSR) under federal regulations. Therefore, case reports do not require review by the Institutional Review Boards in our institution.

Funding

No funding was received.

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    De La Fuente R, Baumann C, Viveiros MM (2011) Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease. Reproduction 142(2):221–234. doi: 10.1530/REP-10-0380 CrossRefGoogle Scholar
  2. 2.
    Ratnakumar K, Bernstein E (2013) ATRX: the case of a peculiar chromatin remodeler. Epigenetics 8(1):3–9. doi: 10.4161/epi.23271 CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Lee J-C, Jeng Y-M, Liau J-Y, Tsai J-H, Hsu H-H, Yang C-Y (2015) Alternative lengthening of telomeres and loss of ATRX are frequent events in pleomorphic and dedifferentiated liposarcomas. Mod Pathol 28:1064–107367. doi: 10.1038/modpathol.2015.67 CrossRefPubMedGoogle Scholar
  4. 4.
    Liau J-Y, Tsai J-H, Jeng Y-M, Lee J-C, Hsu H-H, Yang CY (2015) Leiomyosarcoma with alternative lengthening of telomeres is associated with aggressive histologic features, loss of ATRX expression, and poor clinical outcome. Am J Surg Pathol 39(2):236–244. doi: 10.1097/PAS.0000000000000324 CrossRefPubMedGoogle Scholar
  5. 5.
    Koelsche C, Renner M, Johann P, Leiss I, Sahm F, Schimmack S, Wardelmann E, Renker EK, Schirmacher P, Korshunov A, von Deimling A, Mechtersheimer G (2016) Differential nuclear ATRX expression in sarcomas. Histopathology 68(5):738–745. doi: 10.1111/his.12812 CrossRefPubMedGoogle Scholar
  6. 6.
    Heaphy CM, de Wilde RF, Jiao Y, Klein AP, Edil BH, Shi C, Bettegowda C, Rodriguez FJ, Eberhart CG, Hebbar S, Offerhaus GJ, McLendon R, Rasheed BA, He Y, Yan H, Bigner DD, Oba-Shinjo SM, Marie SKN, Riggins GJ, Kinzler KW, Vogelstein B, Hruban RH, Maitra A, Papadopoulos N, Meeker AK (2011) Altered telomeres in tumors with ATRX and DAXX mutations. Science 333(6041):425. doi: 10.1126/science.1207313 CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Folpe AL, Mentzel T, Lehr H-A, Fisher C, Balzer BL, Weiss SW (2005) Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am J Surg Pathol 29(12):1558–1575. doi: 10.1097/01.pas.0000173232.22117.37 CrossRefPubMedGoogle Scholar
  8. 8.
    López G, Oberheim Bush NA, Berger MS, Perry A, Solomon DA (2017) Diffuse non-midline glioma with H3F3A K27M mutation: a prognostic and treatment dilemma. Acta Neuropathol Commun 5(1):38. doi: 10.1186/s40478-017-0440-x CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    WHO classification of tumours of soft tissue. WHO Classif Tumours Soft Tissue Bone Fourth Ed. 2013;46(February):10–12. doi: 10.1097/PAT.0000000000000050
  10. 10.
    Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F (2008) PEComas: the past, the present and the future. Virchows Arch 452(2):119–132. doi: 10.1007/s00428-007-0509-1 CrossRefPubMedGoogle Scholar
  11. 11.
    Folpe AL, Kwiatkowski DJ (2010) Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum Pathol 41(1):1–15. doi: 10.1016/j.humpath.2009.05.011 CrossRefPubMedGoogle Scholar
  12. 12.
    Fadare O, Parkash V, Yilmaz Y, Mariappan MR, Ma L, Hileeto D, Qumsiyeh MB, Hui P, Adachi S, Hanada M, Kobayashi Y, Tsutahara K, Fukuhara S, Mori N, Hara T, Mukai H, Shimasaku E, Kawai M, Kishikawa N, Yamaguchi S, Bonetti F, Pea M, Martignoni G, Zamboni G, Nuciforo POC, Bonetti F, Pea M, Martignoni G, Zamboni G, Bonetti F, Pea M, Martignoni G, Doglioni C, Zamboni G, Capelli P, Rimondi P, Andrion A, Bonetti F, Martignoni G, Colato C, Manfrin E, Gambacorta M, Faleri M, Bacchi C, Sin V, Wong N, Coady M, Chan J, Crowson A, Taylor J, Magro C, MDV F, Diment J, Colecchia M, Dimmler A, Seitz G, Hohenberger W, Kirchner T, Faller G, Fukunaga M, Folpe A, Folpe A, Goodman Z, Ishak K, Paulino A, Taboada E, Meehan S, Weiss S, Folpe A, McKenney J, Li Z, Smith S, Weiss S, Gaffey M, Zarbo R, Weiss L, Bonetti F, Pea M, Martignoni G, Zamboni G, Gaffey M, Mills S, Gaffey M, Mills S, Zarbo R, Weiss L, Greene L, Mount S, Schned A, Cooper K, Govender D, Sabaratnam R, Essa A, Hendrickson M, Tavassoli F, Kempson R et al (2004) Perivascular epithelioid cell tumor (PEComa) of the uterine cervix associated with intraabdominal “PEComatosis”: a clinicopathological study with comparative genomic hybridization analysis. World J Surg Oncol 2(1):35. doi: 10.1186/1477–7819–2-35 CrossRefPubMedPubMedCentralGoogle Scholar
  13. 13.
    Selvaggi F, Risio D, Claudi R, Cianci R, Angelucci D, Pulcini D, D’Aulerio A, Legnini M, Cotellese R, Innocenti P (2011) Malignant PEComa: a case report with emphasis on clinical and morphological criteria. BMC Surg 11(1):3. doi: 10.1186/1471-2482-11-3 CrossRefPubMedPubMedCentralGoogle Scholar
  14. 14.
    Peng J, Yu B, Wang J, Hong X, Xu Y, Cai S (2010) An unresectable malignant perivascular epithelioid cell tumor resistant to multiple combined chemotherapies: a unique case report. J Pediatr Hematol Oncol 32(4):e136–e138. doi: 10.1097/MPH.0b013e3181b8700b CrossRefPubMedGoogle Scholar
  15. 15.
    Flynn RL, Cox KE, Jeitany M, Wakimoto H, Bryll AR, Ganem NJ, Bersani F, Pineda JR, Suvà ML, Benes CH, Haber DA, Boussin FD, Zou L (2015) Alternative lengthening of telomeres renders cancer cells hypersensitive to ATR inhibitors. Science 347(6219):273–277. doi: 10.1126/science.1257216 CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag GmbH Deutschland 2017

Authors and Affiliations

  1. 1.Department of PathologyRush University Medical CenterChicagoUSA

Personalised recommendations