Recurrent MED12 exon 2 mutations in benign breast fibroepithelial lesions in adolescents and young adults. Issue 3 (22nd November 2018)

• Record Type: Journal Article
• Authors: Pareja, Fresia; Da Cruz Paula, Arnaud; Murray, Melissa P; Hoang, Timothy; Gularte-Mérida, Rodrigo; Brown, David; da Silva, Edaise M; Sebastiao, Ana Paula Martins; Giri, Dilip D; Weigelt, Britta; Reis-Filho, Jorge S; Brogi, Edi
• Is Part Of: Journal of clinical pathology. Volume 72:Issue 3(2019)
• Page Start: 258
• Page End: 262
• Publication Date: 2018-11-22
• Subjects: fibroadenoma -- phyllodes tumour -- sequencing -- MED12 -- telomerase; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jclinpath-2018-205570
• Languages: English
• ISSNs: 0021-9746

Abstract

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.