作者
Martin G Dalin, Alexis Desrichard, Nora Katabi, Vladimir Makarov, Logan A Walsh, Ken-Wing Lee, Qingguo Wang, Joshua Armenia, Lyndsay West, Snjezana Dogan, Lu Wang, Deepa Ramaswami, Alan L Ho, Ian Ganly, David B Solit, Michael F Berger, Nikolaus D Schultz, Jorge S Reis-Filho, Timothy A Chan, Luc GT Morris
发表日期
2016/9/15
期刊
Clinical cancer research
卷号
22
期号
18
页码范围
4623-4633
出版商
American Association for Cancer Research
简介
Purpose: Salivary duct carcinoma (SDC) is an aggressive salivary malignancy, which is resistant to chemotherapy and has high mortality rates. We investigated the molecular landscape of SDC, focusing on genetic alterations and gene expression profiles.
Experimental Design: We performed whole-exome sequencing, RNA sequencing, and immunohistochemical analyses in 16 SDC tumors and examined selected alterations via targeted sequencing of 410 genes in a second cohort of 15 SDCs.
Results: SDCs harbored a higher mutational burden than many other salivary carcinomas (1.7 mutations/Mb). The most frequent genetic alterations were mutations in TP53 (55%), HRAS (23%), PIK3CA (23%), and amplification of ERBB2 (35%). Most (74%) tumors had alterations in either MAPK (BRAF/HRAS/NF1) genes or ERBB2. Potentially targetable alterations based on supportive …
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MG Dalin, A Desrichard, N Katabi, V Makarov… - Clinical cancer research, 2016