Somatic SF3B1 hotspot mutation in prolactinomas.

ABSTRACT: The genetic basis and corresponding clinical relevance of prolactinomas remain poorly understood. Here, we perform whole genome sequencing (WGS) on 21 patients with prolactinomas to detect somatic mutations and then validate the mutations with digital polymerase chain reaction (PCR) analysis of tissue samples from 227 prolactinomas. We identify the same hotspot somatic mutation in splicing factor 3 subunit B1 (SF3B1^R625H) in 19.8% of prolactinomas. These patients with mutant prolactinomas display higher prolactin (PRL) levels (p = 0.02) and shorter progression-free survival (PFS) (p = 0.02) compared to patients without the mutation. Moreover, we identify that the SF3B1^R625H mutation causes aberrant splicing of estrogen related receptor gamma (ESRRG), which results in

SUBMITTER: Li C 

PROVIDER: S-EPMC7237453 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature