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.

journal_name

J Clin Pathol

authors

Pareja F,Da Cruz Paula A,Murray MP,Hoang T,Gularte-Mérida R,Brown D,da Silva EM,Sebastiao APM,Giri DD,Weigelt B,Reis-Filho JS,Brogi E

doi

10.1136/jclinpath-2018-205570

subject

Has Abstract

pub_date

2019-03-01 00:00:00

pages

258-262

issue

3

eissn

0021-9746

issn

1472-4146

pii

jclinpath-2018-205570

journal_volume

72

pub_type

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