EWSR1 gene rearrangement occurs in a subset of cutaneous myoepithelial tumors: A study of 18 cases

Modern Pathology

Volumn 24, Issue 11, 2011, Pages 1444-1450

  Flucke, Uta ^a   Palmedo, Gabriele ^b   Blankenhorn, Nina ^b   Slootweg, Pieter J ^a   Kutzner, Heinz ^b   Mentzel, Thomas ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Dermatopathologie Bodensee   (Germany)

Author keywords

EWSRI rearrangement; FUS rearrangement; mixed tumors; myoepithelial tumors; skin

Indexed keywords

CALPONIN; EMA PROTEIN; GLIAL FIBRILLARY ACIDIC PROTEIN; PANCYTOKERATIN; PROTEIN; PROTEIN S 100; RNA BINDING PROTEIN EWS; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CUTANEOUS MYOEPITHELIAL TUMOR; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENE REARRANGEMENT; HEAD TUMOR; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MIXED TUMOR; MYOEPITHELIAL CARCINOMA; MYOEPITHELIOMA; MYOEPITHELIUM CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCROTUM; SKIN TUMOR; SPINDLE CELL; TUMOR VOLUME;

ADULT; AGED; AGED, 80 AND OVER; AUTOANTIBODIES; CALCIUM-BINDING PROTEINS; CALMODULIN-BINDING PROTEINS; CARCINOMA; FEMALE; GENE REARRANGEMENT; GERMANY; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; KERATINS; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MUCIN-1; MYOEPITHELIOMA; NERVE TISSUE PROTEINS; RNA-BINDING PROTEIN FUS; RNA-BINDING PROTEINS; S100 PROTEINS; SKIN NEOPLASMS; TUMOR BURDEN; TUMOR MARKERS, BIOLOGICAL;

EID: 80455174011     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2011.108     Document Type: Article

References (29)

1. Michal M, Miettinen M. Myoepitheliomas of the skin and soft tissues. Report of 12 cases. Virchows Arch 1999;434:393-400. (Pubitemid 29261527)
2. Kutzner H, Mentzel T, Kaddu S, et al. Cutaneous myoepithelioma: an under-recognized cutaneous neoplasm composed of myoepithelial cells. Am J Surg Pathol 2001;25:348-355. (Pubitemid 32174204)
3. Mentzel T, Requena L, Kaddu S, et al. Cutaneous myoepithelial neoplasms: clinicopathologic and im-munohistochemical study of 20 cases suggesting a continuous spectrum ranging from benign mixed tumor of the skin to cutaneous myoepithelioma and myoepithelial carcinoma. J Cutan Pathol 2003;30: 294-302. (Pubitemid 36648902)
4. Hornick JL, Fletcher CDM. Cutaneous myoepithe-lioma: a clinicopathologic and immunohistochemical study of 14 cases. Hum Pathol 2004;35:14-24. (Pubitemid 38133918)
5. Kilpatrick SE, Hitchcock MG, Kraus MD, et al. Mixed tumors and myoepitheliomas of soft tissue: a clinicopathologic study of 19 cases with a unifying concept. Am J Surg Pathol 1997;21:13-22.
6. Gleason BC, Hornick JL. Myoepithelial tumours of skin and soft tissue: an update. Diagn Histopathol 2008;14:552-562.
7. Hornick JL, Fletcher CDM. Myoepithelial tumors of soft tissue. A clinicopathologic and immuno-histochemical study of 101 cases with evaluation of prognostic parameters. Am J Surg Pathol 2003;27:1183-1196. (Pubitemid 37040580)
8. Bates AW, Baithun SI. Atypical mixed tumor of the skin: histologic, immunohistochemical, and ultrastruc-tural features in three cases and a review of the criteria for malignancy. Am J Dermatopathol 1998;20:35-40. (Pubitemid 28092704)
9. Gleason BC, Fletcher CDM. Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analysed in a series of 29 cases. Am J Surg Pathol 2007;31:1813-1824. (Pubitemid 350175808)
10. Antonescu CR, Zhang L, Chang NE, et al. EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone and visceral lesions showing common involvement of EWSR1 gene rearrangement. Genes Chromosomes Cancer 2010;49:1114-1124.
11. Brandal P, Panagopoulos I, Bjerkehagen B, et al. Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma. Genes Chromosomes Cancer 2008;47:558-564. (Pubitemid 351748342)
12. Brandal P, Panagopoulos I, Bjerkehagen B, et al. t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithe-lial carcinoma. Genes Chromosomes Cancer 2009;48: 1051-1056.
13. Lever WF. Myoepithelial sweat gland tumor, myo-epithelioma; report of three cases with a review of the literature. Arch Derm Syphilol 1948;57:332-347.
14. Requena L, Kiryu H, Ackerman AB. Apocrine Hidra-denoma. Neoplasms with Apocrine Differentiation. Lippincott-Raven: Philadelphia, PA, 1998, pp 243.
15. Winnes M, Molne L, Suurkula M, et al. Frequent fusion of the CRTC1 and MAML2 genes in clear cell variants of cutaneous hidradenomas. Genes Chromosomes Cancer 2007;46:559-563. (Pubitemid 46649570)
16. O'Neill ID. t(11;19) translocation and CRTC1-MAML2 fusion oncogene in mucoepidermoid carcinoma. Oral Oncol 2009;45:2-9.
17. Möller E, Stenman G, Mandahl N, et al. POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands. J Pathol 2008;215:78-86. (Pubitemid 351619878)
18. Stenman G. Fusion oncogenes and tumor type specificity-insights from salivary gland tumors. Semin Cancer Biol 2005;15:224-235.
19. Flucke U, Hulsebos TJM, van Krieken JHJM, et al. Myxoid epithelioid sarcoma: a diagnostic challenge. A report on six cases. Histopathology 2010;57:753-759.
20. Chbani L, Guillou L, Terrier P, et al. Epithelioid sarcoma. A clinicopathologic and immunohistochem-ical analysis of 106 cases from the French Sarcoma Group. Am J Clin Pathol 2009;13:222-227.
21. Hornick JL, Dal Cin P, Fletcher CDM. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol 2009;33:542-550.
22. Kohashi K, Izumi T, Oda Y, et al. Infrequent SMARCB1/INI1 gene alteration in epithelioid sarcoma: a useful tool in distinguishing epithelioid sarcoma from malignant rhabdoid tumor. Hum Pathol 2009;40:349-355.
23. Guillou L, Wadden C, Coindre JM, et al. Proximal-type epithelioid sarcoma, a distinctive aggressive neoplasm showing rhabdoid features: clinicopathologic, immu-nohistochemical, and ultrastructural study of a series. Am J Surg Pathol 1997;21:130-146. (Pubitemid 27084052)
24. Miettinen M, Fanburg-Smith JC, Virolainen M, et al. Epithelioid sarcoma: an immunohistochemical analysis of 112 classical and variant cases and a discussion of the differential diagnosis. Hum Pathol 1999;30: 934-942. (Pubitemid 29380517)
25. Modena P, Lualdi E, Facchinetti F, et al. SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcoma. Cancer Res 2005;65: 4012-4019. (Pubitemid 40775637)
26. Gasparini P, Facchinetti F, Boeri M, et al. Prognostic determinants in epithelioid sarcoma. Eur J Cancer 2011;47:287-295.
27. Fletcher CDM, Unni K, Mertens F, (eds). World Health Organization Classification of Tumours. Pathology and Genetics of Tumors of Soft tissue and Bone. IARC Press: Lyon, France, 2002, pp 196, 213.
28. Folpe AL, Weiss SW. Ossifying fibromyxoid tumor of soft parts. A clinicopathologic study of 70 cases with emphasison atypical and malignant variants. Am J Surg Pathol 2003;27:421-431. (Pubitemid 36368539)
29. Miettinen M, Finnell V, Fetsch JF. Ossifying fibromyx-oid tumor of soft parts-A clinicopathologic and immunohistochemical study of 104 cases with long-term follow-up and a critical review of the literature. Am J Surg Pathol 2008;32:996-1005.