Recurrent MED12 exon 2 mutations in benign breast fibroepithelial lesions in adolescents and young adults.

ABSTRACT: AIMS:Most benign breast fibroepithelial lesions (FEL) in adults harbour recurrent somatic MED12 exon 2 mutations and rare TERT promoter hotspot mutations. We sought to determine the frequency of MED12 exon 2 and TERT promoter hotspot mutations in fibroadenomas (FA) and benign phyllodes tumours (BePT) in adolescents and young adults. METHODS:DNA from 21 consecutive FAs and eight consecutive BePTs in adolescents and young adults was subjected to Sanger sequencing of the exon 2 of MED12 and the TERT promoter hotspot locus. RESULTS:We identified MED12 exon 2 mutations in 62% and 88% of FAs and BePTs, respectively, and no TERT promoter hotspot mutations. The majority of the MED12 exon 2 mutations identified were in-frame deletions (60%). CONCLUSIONS:As in adults, benign FELs in juvenile patients harbour recurrent MED12 exon 2 mutations.

SUBMITTER: Pareja F 

PROVIDER: S-EPMC6580856 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature