Open AccessConcurrent Identification of Novel EGFR–SEPT14 Fusion and ETV6–RET Fusion in Secretory Carcinoma of the Salivary Gland
Author(s) -
Margaret A. Black,
Cheng Liu,
Maristela L. Onozato,
A. John Iafrate,
Farbod Darvishian,
George Jour,
Paolo Cotzia
Publication year - 2019
Publication title -
head and neck pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.801
H-Index - 50
eISSN - 1936-0568
pISSN - 1936-055X
DOI - 10.1007/s12105-019-01074-6
Subject(s) - etv6 , fusion gene , salivary gland , biology , carcinoma , mammaglobin , gene rearrangement , pathology , cancer research , gene , chromosomal translocation , medicine , cancer , breast cancer , genetics
Salivary gland secretory carcinoma, also termed mammary analogue secretory carcinoma (MASC), is a recently described salivary gland neoplasm with characteristic histomorphologic findings similar to those of secretory carcinoma of the breast and harboring recurrent ETV6-NTRK3 fusions. Recent findings have expanded the molecular profile of salivary gland secretory carcinoma to include multiple novel ETV6 fusion partners, including RET, MET, and MAML3. Here, we report a case of cystic MASC with cribriform and papillary histology harboring two gene fusions, ETV6-RET and EGFR-SEPT14, identified by targeted RNA sequencing. The presence of the rearrangements was confirmed by FISH, RT-PCR, and Sanger sequencing. This is the first EGFR-SEPT14 fusion reported in secretory carcinoma as a single event or in association with an ETV6 rearrangement. This finding adds to the expanding molecular profile of this tumor entity, and may translate into novel treatment strategies.