Frequent MED12 mutations in phyllodes tumours of the breast

M. Yoshida, S. Sekine, R. Ogawa, H. Yoshida, A. Maeshima, Y. Kanai, T. Kinoshita, A. Ochiai

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Abstract

Background:Phyllodes tumours are rare fibroepithelial tumours of the breast, that include benign, borderline, and malignant lesions. Although the molecular basis of phyllodes tumours largely remains unknown, a recent exome study identified MED12 mutations as a sole recurrent genetic alteration in fibroadenoma, a common benign fibroepithelial tumour that shares some histological features with the phyllodes tumour.Methods:Forty-six phyllodes tumours and 58 fibroadenomas of the breast were analysed for MED12 mutations by using Sanger sequencing.Results:MED12 mutations were identified in 37 out of the 46 phyllodes tumours (80%). The prevalence of MED12 mutations was similar among benign (15/18, 83%), borderline (12/15, 80%), and malignant tumours (10/13, 77%). MED12 mutations were also identified in 36 of the 58 fibroadenomas (62%). The mutations were frequent among intracanalicular-type (24/32, 75%) and complex-type lesions (4/6, 67%), but were significantly less common among the pericanalicular-type lesions (8/20, 40%). A microdissection-based analysis showed that MED12 mutations were confined to the stromal components in both phyllodes tumours and fibroadenomas.Conclusions:MED12 mutations were frequent among the phyllodes tumours of the breast, regardless of the tumour grade. Phyllodes tumours and fibroadenomas share, at least in part, a common genetic background.

Original languageEnglish
Pages (from-to)1703-1708
Number of pages6
JournalBritish Journal of Cancer
Volume112
Issue number10
DOIs
Publication statusPublished - 2015 May 12

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Keywords

  • MED12
  • breast
  • fibroadenoma
  • phyllodes tumour

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

Yoshida, M., Sekine, S., Ogawa, R., Yoshida, H., Maeshima, A., Kanai, Y., Kinoshita, T., & Ochiai, A. (2015). Frequent MED12 mutations in phyllodes tumours of the breast. British Journal of Cancer, 112(10), 1703-1708. https://doi.org/10.1038/bjc.2015.116