Whole‐exome sequencing of oral mucosal melanoma reveals mutational profile and therapeutic targets

• DOI: 10.1002/path.5017
• Publication Date: 2017-12-12T09:39:08Z
• Authors: Jiong Lyu; Zhijian Song; Jianhua Chen; Matthew J Shepard; Hao Song; Guoxin Ren; Zhiqiang Li; Wei Guo; Zhengping Zhuang; Yongyong Shi
• Keywords: Copy number analysis; Exome; Mucosal melanoma; Targeted Therapy

Oral mucosal melanoma (OMM) is a rare and aggressive subtype of with little known about its pathogenesis or carcinogenesis. We therefore performed whole-exome sequencing (WES) on 19 matched OMM tumor/normal pairs in order to gain insight into potential genetic drivers tumor formation. For the first time, we describe comprehensive mutational profile OMM. Our data suggest that background differs from those other subtypes. identified recurrent mutations involving KIT, POLE, PTPRD, PTCHD2, DMXL2. Notably, copy number analysis revealed recurrently amplified regions 12q14 (57.9%, containing CDK4) 5p15 (47.4%, TERT). CNV separate cohort 15 samples validated frequent CDK4 TERT. also observed melanocyte development pigmentation signaling pathway frequently altered Furthermore, our several genes may be amenable for targeted therapy. one patient metastatic who was harbor targetable KIT mutation using WES results. This able achieve complete remission following implementation KIT-targeted These findings provide further underpinnings patients benefit identify mutations. Copyright © 2017 Pathological Society Great Britain Ireland. Published by John Wiley & Sons, Ltd.