Thymic Mucoepidermoid Carcinoma: Report of a Case With CTRC1/3-MALM2 Molecular Studies

International Journal of Surgical Pathology
Carlos N Prieto-GranadaJames Mueller

Abstract

Thymic mucoepidermoid carcinoma (TMEC) is a vanishingly rare entity that usually presents as low to intermediate grade MEC and carries a better prognosis when compared with other poorly differentiated thymic carcinomas. The recently described fusions, t(11;19)(q21;p13) CREB (cAMP response element-binding protein)-regulated transcription coactivator 1 and MAML2, mastermind-like gene 2 (CRTC1-MAML2) and t(11:15)(q21;q26) CRTC3-MAML2 characterize a considerable proportion of MEC examples arising from a variety of anatomical sites. Recent data point out that the aberrant proteins produced by this fusion drive oncogenesis by disrupting the cAMP/CREB and NOTCH1 pathways. To date, only 2 TMEC cases have been reported to have MAML2 rearrangements, a feature that was found to be absent in TMEC mimics. These findings led the authors to recommend this test as a diagnostic tool in the differential diagnosis for thymic carcinoma. Herein, we present a case of TMEC arising in a 58-year-old woman, which was predominantly cystic with intracystic papillary formations composed of a mixture of mucinous cells and intermediate/epidermoid eosinophilic cells. This case was negative for CTCR1-MAML2 and CTCR3-MAML2 fusion transcripts by reverse transcri...Continue Reading

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Citations

Dec 13, 2016·Advances in Anatomic Pathology·Neda KalhorCesar A Moran
Oct 9, 2019·Advances in Anatomic Pathology·Ameer HamzaNeda Kalhor
May 17, 2017·International Journal of Surgical Pathology·Carlos N Prieto-Granada, Todd Stevens
Jan 4, 2021·Virchows Archiv : an International Journal of Pathology·Anja C Roden, Malgorzata Szolkowska
Mar 22, 2021·Seminars in Diagnostic Pathology·Anja C Roden

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Methods Mentioned

BETA
PCR

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