NGS based identification of mutational hotspots for targeted therapy in anaplastic thyroid carcinoma.

ABSTRACT:

Context

Anaplastic thyroid carcinoma (ATC) represents one of the most aggressive carcinomas with no consistent survival benefit when treated with conventional radiochemotherapy. Approaches targeting "oncogene addiction" of ATC are increasingly explored and first promising results have been reported in single case studies.

Objective

To determine the prevalence of mutations in known thyroid oncogenes and signalling pathways amendable to targeted therapy in a large cohort of ATC.

Results

In 118 ATC (57 male/ 61 female) a total of 165 mutations were found. Genes involved in the MAPK/ERK and PI3K pathway (BRAF 11.0%, HRAS 4.2%, KRAS 7.6%, NRAS 7.6%, PI3KCA 11.8%) were altered in 33%. Targetable receptor tyrosine kinases were mutated in 11%. The most frequently altered gene

SUBMITTER: Tiedje V 

PROVIDER: S-EPMC5522092 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature