MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours.

ABSTRACT:

Background

MED12 and TERT promoter mutations have been shown to be the most common somatic mutations in phyllodes tumours (PTs). The aims of this study were to determine the frequency of these mutations in recurrent PTs, assess whether TERT promoter mutations could be helpful in distinguishing fibroadenomas (FAs) from PTs and identify novel mutations that may be driving malignant progression.

Methods

MED12 and the TERT promoter were Sanger sequenced in 75 primary PTs, 21 recurrences, 19 single FAs and 2 cases of multiple FAs with benign PTs. Whole-exome sequencing was performed on one borderline PT.

Results

Recurrent PTs and multiple FAs showed temporal discordance in MED12 but not TERT. Recurrent samples did acquire TERT mutations, with recurrent benign PTs more like

SUBMITTER: Garcia-Dios DA 

PROVIDER: S-EPMC5785756 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature