Identification of a novel somatic mutation of POU6F2 by whole-genome sequencing in prolactinoma.

ABSTRACT:

Background

Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)-secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown.

Methods

Here, we present a patient with an extremely aggressive and giant prolactinoma accompanied by serious destruction of the surrounding bone mass. This patient exhibited resistance to dopaminergic drugs. Through whole-genome sequencing, we identified two novel somatic mutations in the POU6F2 gene (NM_001166018.2: c. 839 C>T; NM_001166018.2: c. 875A>G).

Results

This report is the first to identify these somatic mutations in the POU6F2 gene in a prolactinoma. We found that these two mutations obviously decreased the expression level of POU6F2.

SUBMITTER: Miao Y 

PROVIDER: S-EPMC6900357 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature