Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

ABSTRACT:

Background

Esophageal sarcomatoid carcinoma (ESC) is a rare disease with a mixture of both carcinomatous and sarcomatous components in the tumor. Its genetic background and mechanisms of oncogenesis remain largely unknown.

Methods

Here we performed targeted next generation sequencing (NGS) on a pan-cancer gene panel in 15 ESC tumors to explore their genetic alterations, and aimed to identify clinically actionable mutations for future treatment instructions.

Results

TP53 alterations were identified in all patients. Alterations in receptor tyrosine kinases (RTK) were identified in 10 out of 15 patients. Members of downstream RAS and PI3-kinase pathways are also mutated in 10 patients, and PIK3CA is the top mutated gene in these pathways. In addition, we identified mutat

SUBMITTER: Lu H 

PROVIDER: S-EPMC5838991 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature