What the EWSR1-ATF1 Fusion has Taught Us About Hyalinizing Clear Cell Carcinoma

Head and Neck Pathology

Volumn 7, Issue 1, 2013, Pages 28-34

  Tanguay, Jeff ^a,b   Weinreb, Ilan ^a,b  

^a UNIVERSITY HEALTH NETWORK   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

ATF1; EWSR1; Hyalinizing clear cell carcinoma; Salivary gland

Indexed keywords

EID: 84874994890     PISSN: 1936055X     EISSN: 19360568     Source Type: Journal    
DOI: 10.1007/s12105-013-0427-2     Document Type: Article

References (23)

1. Weinreb I, Seethala RR, Perez-Ordoñez B, Chetty R, Hoschar AP, Hunt JL. Oncocytic mucoepidermoid carcinoma: clinicopathologic description in a series of 12 cases. Am J Surg Pathol. 2009; 33(3): 409-16.
2. Barber B, Côté D, Seikaly H. Clearing up clear cell tumours of the head and neck: differentiation of hyalinizing and odontogenic varieties. J Otolaryngol Head Neck Surg. 2010; 39(5): E56-60.
3. Tonon G, Modi S, Wu L, Kubo A, Coxon AB, Komiya T, O'Neil K, Stover K, El-Naggar A, Griffin JD, Kirsch IR, Kaye FJ. t(11; 19)(q21; p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. Nat Genet. 2003; 33(2): 208-13.
4. Williams MD, Roberts DB, Kies MS, Mao L, Weber RS, El-Naggar AK. Genetic and expression analysis of HER-2 and EGFR genes in salivary duct carcinoma: empirical and therapeutic significance. Clin Cancer Res. 2010; 16(8): 2266-74.
5. Persson M, Andrén Y, Mark J, Horlings HM, Persson F, Stenman G. Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck. Proc Natl Acad Sci USA. 2009; 106(44): 18740-4.
6. Skálová A, Vanecek T, Sima R, Laco J, Weinreb I, Perez-Ordonez B, Starek I, Geierova M, Simpson RH, Passador-Santos F, Ryska A, Leivo I, Kinkor Z, Michal M. Mammary analogue secretory carcinoma of salivary glands, containing the ETV6-NTRK3 fusion gene: a hitherto undescribed salivary gland tumor entity. Am J Surg Pathol. 2010; 34(5): 599-608.
7. Antonescu CR, Katabi N, Zhang L, Sung YS, Seethala RR, Jordan RC, Perez-Ordoñez B, Have C, Asa SL, Leong IT, Bradley G, Klieb H, Weinreb I. EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland. Genes Chromosomes Cancer. 2011; 50(7): 559-70.
8. Milchgrub S, Gnepp DR, Vuitch F, Delgado R, Albores-Saavedra J. Hyalinizing clear cell carcinoma of salivary gland. Am J Surg Pathol. 1994; 18(1): 74-82.
9. Antonescu CR, Zhang L, Chang NE, Pawel BR, Travis W, Katabi N, Edelman M, Rosenberg AE, Nielsen GP, Dal Cin P, Fletcher CD. 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 the EWSR1 gene. Genes Chromosomes Cancer. 2010; 49(12): 1114-24.
10. Möller E, Stenman G, Mandahl N, Hamberg H, Mölne L, van den Oord JJ, Brosjö O, Mertens F, Panagopoulos I. 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(1): 78-86.
11. Shah AA, LeGallo RD, van Zante A, Frierson Jr. HF, Mills SE, Berean KW, Mentrikoski MJ, Stelow EB. EWSR1 genetic rearrangements in salivary gland tumors: a specific and very common feature of hyalinizing clear cell carcinoma. Am J Surg Pathol (in press).
12. Jin R, Craddock KJ, Irish JC, Perez-Ordonez B, Weinreb I. Recurrent hyalinizing clear cell carcinoma of the base of tongue with high-grade transformation and EWSR1 gene rearrangement by FISH. Head Neck Pathol. 2012; 6(3): 389-94.
13. Barnes L, Eveson JW, Reichart P, et al., editors. World Health Organization classification of tumours. Pathology and genetics of head and neck tumours. Lyon: IARC Press; 2005.
14. Seethala RR, Dacic S, Cieply K, Kelly LM, Nikiforova MN. A reappraisal of the MECT1/MAML2 translocation in salivary mucoepidermoid carcinomas. Am J Surg Pathol. 2010; 34(8): 1106-21.
15. García JJ, Hunt JL, Weinreb I, McHugh JB, Barnes EL, Cieply K, Dacic S, Seethala RR. Fluorescence in situ hybridization for detection of MAML2 rearrangements in oncocytic mucoepidermoid carcinomas: utility as a diagnostic test. Hum Pathol. 2011; 42(12): 2001-9.
16. Connor A, Perez-Ordoñez B, Shago M, Skálová A, Weinreb I. Mammary analog secretory carcinoma of salivary gland origin with the ETV6 gene rearrangement by FISH: expanded morphologic and immunohistochemical spectrum of a recently described entity. Am J Surg Pathol. 2012; 36(1): 27-34.
17. O'Sullivan-Mejia ED, Massey HD, Faquin WC, Powers CN. Hyalinizing clear cell carcinoma: report of eight cases and a review of literature. Head Neck Pathol. 2009; 3(3): 179-85.
18. Solar AA, Schmidt BL, Jordan RC. Hyalinizing clear cell carcinoma: case series and comprehensive review of the literature. Cancer. 2009; 115(1): 75-83.
19. Dardick I, Leong I. Clear cell carcinoma: review of its histomorphogenesis and classification as a squamous cell lesion. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009; 108(3): 399-405.
20. Bilodeau EA, Hoschar AP, Barnes EL, Hunt JL, Seethala RR. Clear cell carcinoma and clear cell odontogenic carcinoma: a comparative clinicopathologic and immunohistochemical study. Head Neck Pathol. 2011; 5(2): 101-7.
21. Berho M, Huvos AG. Central hyalinizing clear cell carcinoma of the mandible and the maxilla a clinicopathologic study of two cases with an analysis of the literature. Hum Pathol. 1999; 30(1): 101-5.
22. Ellis GL, Auclair PL. Malignant epithelial neoplasms. In: Silverberg SG, Sobin LH, editors. Armed Forces Institute of Pathology (AFIP) Atlas of tumor Pathology. Tumors of the salivary glands (fourth series, fascicle 9). Maryland: ARP Press; 2008. p. 301-9.
23. Bilodeau EA, Weinreb I, Antonescu CR, Zhang L, Dacic S, Muller S, Barker B, Seethala RR. Clear cell odontogenic carcinomas show EWSR1 rearrangements: a novel finding & biologic link to salivary clear cell carcinomas. Mod Pathol. 2012; 25 (Supplement 2s): 101: 305A.