TY - JOUR
T1 - Frequent MED12 mutations in phyllodes tumours of the breast
AU - Yoshida, M.
AU - Sekine, S.
AU - Ogawa, R.
AU - Yoshida, H.
AU - Maeshima, A.
AU - Kanai, Y.
AU - Kinoshita, T.
AU - Ochiai, A.
N1 - Funding Information:
We are grateful to Ms. Sachiko Miura, Ms. Toshiko Sakaguchi and Ms. Chizu Kina for the technical assistance. This work was supported in part by the National Cancer Center Research and Development Fund (26-A-4).
Publisher Copyright:
© 2015 Cancer Research UK. All rights reserved.
PY - 2015/5/12
Y1 - 2015/5/12
N2 - 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.
AB - 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.
KW - MED12
KW - breast
KW - fibroadenoma
KW - phyllodes tumour
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U2 - 10.1038/bjc.2015.116
DO - 10.1038/bjc.2015.116
M3 - Article
C2 - 25839987
AN - SCOPUS:84929271920
SN - 0007-0920
VL - 112
SP - 1703
EP - 1708
JO - British Journal of Cancer
JF - British Journal of Cancer
IS - 10
ER -