Abstract
The predominance of clear cells in mucoepidermoid carcinomas (MEC) is rare, and cases in which this occurs are termed clear cell variants of MEC. We present a case of a 70-year-old woman complaining of a right buccal mucosal mass, which had increased in size over 1 year. Histological examination revealed the mass to be composed predominantly of clear tumor cells, with mucin-containing cells and intermediate cell-like cells. Immunohistochemistry indicated that the tumor was positive for CK5/6 and p63, but negative for myoepithelial markers such as S-100 protein, αSMA, and calponin. These findings ruled out the possibility of a clear cell myoepithelial carcinoma, which is the most frequently observed type of salivary carcinoma composed predominantly of clear cells. However, it is difficult to distinguish between clear cell variants of MEC and hyalinizing clear cell carcinoma. Therefore, we performed fluorescence in situ hybridization to determine whether MAML2 rearrangement had occurred in this mass. Direct sequencing of the RT-PCR product demonstrated CRTC1-MAML2 fusion between exon 1 of CRTC1 and exon 2 of MAML2. Thus, the diagnosis of clear cell variant of MEC was confirmed. This is the first report of CRTC1-MAML2 fusion gene detection in a clear cell variant of MEC.
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References
Goode RK, Auclair PL, Ellis GL (1998) Mucoepidermoid carcinoma of the major salivary glands: clinical and histopathologic analysis of 234 cases with evaluation of grading criteria. Cancer 82(7):1217–1224
Guzzo M, Andreola S, Sirizzotti G, Cantu G (2002) Mucoepidermoid carcinoma of the salivary glands: clinicopathologic review of 108 patients treated at the National Cancer Institute of Milan. Ann Surg Oncol 9(7):688–695
Terada T, Ikeuchi S, Inomoto C, Shimamura K (2004) Mucoepidermoid carcinoma of the palate composed exclusively of clear cells (clear cell variant). Virchows Arch 445(5):541–543. doi:10.1007/s00428-004-1086-1
Yang S, Chen X (2010) Calcifications in clear cell mucoepidermoid carcinomas. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 109(2):274–275. doi:10.1016/j.tripleo.2009.08.012
Clauditz TS, Gontarewicz A, Wang CJ, Munscher A, Laban S, Tsourlakis MC, Knecht R, Sauter G, Wilczak W (2012) 11q21 rearrangement is a frequent and highly specific genetic alteration in mucoepidermoid carcinoma. Diagn Mol Pathol 21(3):134–137. doi:10.1097/PDM.0b013e318255552c
Behboudi A, Enlund F, Winnes M, Andren Y, Nordkvist A, Leivo I, Flaberg E, Szekely L, Makitie A, Grenman R, Mark J, Stenman G (2006) Molecular classification of mucoepidermoid carcinomas-prognostic significance of the MECT1-MAML2 fusion oncogene. Genes Chromosomes Cancer 45(5):470–481. doi:10.1002/gcc.20306
O’Neill ID (2009) t(11;19) translocation and CRTC1-MAML2 fusion oncogene in mucoepidermoid carcinoma. Oral Oncol 45(1):2–9. doi:10.1016/j.oraloncology.2008.03.012
Fehr A, Roser K, Heidorn K, Hallas C, Loning T, Bullerdiek J (2008) A new type of MAML2 fusion in mucoepidermoid carcinoma. Genes Chromosomes Cancer 47(3):203–206. doi:10.1002/gcc.20522
Nakayama T, Miyabe S, Okabe M, Sakuma H, Ijichi K, Hasegawa Y, Nagatsuka H, Shimozato K, Inagaki H (2009) Clinicopathological significance of the CRTC3-MAML2 fusion transcript in mucoepidermoid carcinoma. Mod Pathol 22(12):1575–1581. doi:10.1038/modpathol.2009.126
Okumura Y, Miyabe S, Nakayama T, Fujiyoshi Y, Hattori H, Shimozato K, Inagaki H (2011) Impact of CRTC1/3-MAML2 fusions on histological classification and prognosis of mucoepidermoid carcinoma. Histopathology 59(1):90–97. doi:10.1111/j.1365-2559.2011.03890.x
Skalova A, Weinreb I, Hyrcza M, Simpson RH, Laco J, Agaimy A, Vazmitel M, Majewska H, Vanecek T, Talarcik P, Manajlovic S, Losito SN, Steiner P, Klimkova A, Michal M (2015) Clear cell myoepithelial carcinoma of salivary glands showing EWSR1 rearrangement: molecular analysis of 94 salivary gland carcinomas with prominent clear cell component. Am J Surg Pathol 39(3):338–348. doi:10.1097/pas.0000000000000364
Weinreb I (2013) Hyalinizing clear cell carcinoma of salivary gland: a review and update. Head Neck Pathol 7(Suppl 1):S20–S29. doi:10.1007/s12105-013-0466-8
Antonescu CR, Katabi N, Zhang L, Sung YS, Seethala RR, Jordan RC, Perez-Ordonez B, Have C, Asa SL, Leong IT, Bradley G, Klieb H, Weinreb I (2011) EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland. Genes Chromosomes Cancer 50(7):559–570. doi:10.1002/gcc.20881
do Prado RF, Lima CF, Pontes HA, Almeida JD, Cabral LA, Carvalho YR (2007) Calcifications in a clear cell mucoepidermoid carcinoma: a case report with histological and immunohistochemical findings. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 104(5):e40–e44. doi:10.1016/j.tripleo.2007.06.001
Azevedo RS, de Almeida OP, Kowalski LP, Pires FR (2008) Comparative cytokeratin expression in the different cell types of salivary gland mucoepidermoid carcinoma. Head Neck Pathol 2(4):257–264. doi:10.1007/s12105-008-0074-1
Luna MA (2006) Salivary mucoepidermoid carcinoma: revisited. Adv Anat Pathol 13(6):293–307. doi:10.1097/01.pap.0000213058.74509.d3
Jee KJ, Persson M, Heikinheimo K, Passador-Santos F, Aro K, Knuutila S, Odell EW, Makitie A, Sundelin K, Stenman G, Leivo I (2013) Genomic profiles and CRTC1-MAML2 fusion distinguish different subtypes of mucoepidermoid carcinoma. Mod Pathol 26(2):213–222. doi:10.1038/modpathol.2012.154
Verdorfer I, Fehr A, Bullerdiek J, Scholz N, Brunner A, Krugmann J, Hager M, Haufe H, Mikuz G, Scholtz A (2009) Chromosomal imbalances, 11q21 rearrangement and MECT1-MAML2 fusion transcript in mucoepidermoid carcinomas of the salivary gland. Oncol Rep 22(2):305–311
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Tajima, S., Namiki, I. & Koda, K. A clear cell variant of mucoepidermoid carcinoma harboring CRTC1-MAML2 fusion gene found in buccal mucosa: report of a case showing a large clear cell component and lacking typical epidermoid cells and intermediate cells. Med Mol Morphol 50, 117–121 (2017). https://doi.org/10.1007/s00795-015-0120-5
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DOI: https://doi.org/10.1007/s00795-015-0120-5