Comprehensive Genomic Profiling of Metastatic Squamous Cell Carcinoma of the Anal Canal.

ABSTRACT: Squamous cell carcinoma of the anal canal (SCCA) is a rare gastrointestinal malignancy with an increasing annual incidence globally. The majority of cases are linked to prior infection with the human papillomavirus (HPV). For patients with metastatic SCCA, no consensus standard treatment exists. Identification of relevant targeted agents as novel therapeutic approaches for metastatic SCCA has been limited by a lack of comprehensive molecular profiling. We performed whole-exome sequencing on tumor-normal pairs from 24 patients with metastatic SCCA. Tumor tissue from 17 additional patients was analyzed using a 263-gene panel as a validation cohort. Gene expression profiling was performed on available frozen tissue to assess for differential expression patterns. Based on these findings, patie

SUBMITTER: Morris V 

PROVIDER: S-EPMC5991496 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature