Synapse - Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast

Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast Journal Article

Authors:	Da Silva, E. M.; Beca, F.; Sebastiao, A. P. M.; Murray, M. P.; Silveira, C.; Da Cruz Paula, A.; Pareja, F.; Wen, H. Y.; D'Alfonso, T. M.; Edelweiss, M.; Weigelt, B.; Brogi, E.; Reis-Filho, J. S.; Zhang, H.
Article Title:	Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast
Abstract:	Aims Here we explore the presence of mediator complex subunit 12 (MED12) exon 2 and telomerase reverse transcriptase (TERT) promoter hotspot mutations in complex fibroadenomas (CFAs) of the breast. Methods The stromal components from 18 CFAs were subjected to Sanger sequencing of MED12 exon 2 and the TERT promoter hotspot loci. The epithelial and stromal components of two MED12 mutated CFAs were subjected to laser capture microdissection, and Sanger sequencing of MED12 exon 2, TERT promoter and PIK3CA exons 9 and 20, separately. Results MED12 exon 2 mutations were identified in the stroma of 17% of CFAs. The analyses of epithelial and stromal components, microdissected separately, revealed that MED12 mutations were restricted to the stroma. No TERT promoter or PIK3CA mutations in exons 9 and 20 were detected in analysed CFAs. Conclusions Like conventional fibroadenomas, MED12 exon 2 mutations appear to be restricted to the stromal component of CFAs, supporting the notion that CFAs are stromal neoplasms. © Author(s) (or their employer(s)) 2022
Keywords:	adult; aged; aged, 80 and over; middle aged; exon; genetics; mutation; exons; phenotype; genetic predisposition to disease; breast; pathology; breast neoplasms; telomerase; tumor marker; biopsy; breast tumor; dna mutational analysis; stroma cell; stromal cells; genetic predisposition; fibroadenoma; molecular; mediator complex; tert protein, human; very elderly; pik3ca protein, human; phosphatidylinositol 4,5 bisphosphate 3 kinase; humans; human; female; biomarkers, tumor; med12 protein, human; class i phosphatidylinositol 3-kinases
Journal Title:	Journal of Clinical Pathology
Volume:	75
Issue:	2
ISSN:	0021-9746
Publisher:	BMJ Publishing Group Ltd.
Date Published:	2022-02-01
Start Page:	133
End Page:	136
Language:	English
DOI:	10.1136/jclinpath-2020-207062
PUBMED:	33376197
PROVIDER:	scopus
PMCID:	PMC8260148
DOI/URL:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-85098629508&doi=10.1136%2fjclinpath-2020-207062&partnerID=40&md5=415e1adbe330638c54afdb5b2ed5392a
Notes:	Article -- Export Date: 1 March 2022 -- Source: Scopus