Salivary duct carcinoma (SDC) is a rare, aggressive malignancy with limited treatment options and poor outcome. Twenty-nine primary resected SDC, including 15 SDC de novo (SDCDN), and 14 SDC ex pleomorphic adenoma (SDCXPA) were subjected to the massive parallel sequencing assay (MSK-IMPACT) targeting 287 to 468 cancer-related genes. TP53 was the most frequently altered gene (69%). TP53 mutations and ERBB2 amplification were more frequent in SDCXPA than in SDCDN (P = .0007 and P = .01, respectively). Potentially targetable mutations were detected in 79% (23/29) of SDC involving ERBB2 (31%), PIK3CA (28%), HRAS (21%), ALK (7%) and BRAF (3%), and 22% (5/23) of those cases harbored possible primary resistance mutations involving CCNE1, NF1 and PTEN. A novel HNRNPH3-ALK rearrangement was found in one SDCDN. In another case, EML4-ALK fusion detected in the primary tumor was associated with ALK G1202R secondary resistance mutation in the post-treatment metastasis. A germline analysis of the DN..... READ ARTICLE
Human Pathology DOI:10.1016/j.humpath.2019.03.004
Authors: Snjezana Dogan, Charlotte K. Y. Ng, Bin Xu, Rahul Kumar, Lu Wang, Marcia Edelweiss, Sasinya N. Scott, Ahmet Zehir, Alexander Drilon, Luc, G. T. Morris, Nancy Y. Lee,Cristina R. Antonescu, Alan L. Ho, Nora Katabi, Michael F. Berger, Jorge S. Reis-Filho