Abstract:
AIMS:Fibroadenomas (FAs) and phyllodes tumours (PTs) are fibroepithelial tumours. Mutations in MED12 exon 2 have been reported in FAs. This study investigated the MED12 mutations in a spectrum of fibroepithelial tumours. METHODS AND RESULTS:Using direct sequencing, we analysed MED12 exon 2 mutations on 121 samples, including PTs and FAs and variants. We found MED12 mutations in 71.4% of PTs. No significant difference in the mutation frequency was observed between benign, borderline and malignant PTs, and a general lack of correlation existed between mutations and pathological factors associated with PT grading. The mutation patterns were similar between PTs and FAs, with codon 44 being involved most frequently. MED12 mutations were identified in 47.1, 52.6 and 50.0% of complex FAs, juvenile FAs and tubular adenomas (TAs), respectively, and the frequency and mutation patterns were similar between these FA variants and usual FAs. CONCLUSIONS:The high frequency and similar patterns of MED12 mutations in FAs and various grades of PTs implies that the MED12 mutation is a common and early pathological event in these fibroepithelial tumours. The similar frequency and patterns of the MED12 mutation between FAs and variants suggests that FA variants are bona fide FAs, with identical pathogenesis involving MED12 mutations.
journal_name
Histopathologyjournal_title
Histopathologyauthors
Lien HC,Huang CS,Yang YW,Jeng YMdoi
10.1111/his.12764subject
Has Abstractpub_date
2016-02-01 00:00:00pages
433-41issue
3eissn
0309-0167issn
1365-2559journal_volume
68pub_type
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