Frequent MED12 mutations in phyllodes tumours of the breast.
Frequent MED12 mutations in phyllodes tumours of the breast.
复制标题
乳房质量频繁的MED12突变。
DOI：
10.1038/bjc.2015.116
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发表时间：
2015-05-12
影响因子：
8.8
通讯作者：
Ochiai A
中科院分区：
文献类型：
--
作者：
Yoshida M;Sekine S;Ogawa R;Yoshida H;Maeshima A;Kanai Y;Kinoshita T;Ochiai A
叶状肿瘤是一种罕见的乳腺纤维上皮肿瘤，包括良性、交界性和恶性病变。虽然叶状肿瘤的分子基础在很大程度上仍然未知，但最近的一项外显子组研究将MED 12突变确定为纤维腺瘤中唯一的复发性遗传改变，纤维腺瘤是一种常见的良性纤维上皮肿瘤，与叶状肿瘤共享一些组织学特征。通过桑格测序分析了46例叶状肿瘤和58例乳腺纤维腺瘤的MED 12突变。MED 12突变在46个叶状肿瘤中的37个（80%）中被确定。MED 12突变的患病率在良性肿瘤（15/18，83%）、交界性肿瘤（12/15，80%）和恶性肿瘤（10/13，77%）中相似。MED 12突变也在58例纤维腺瘤中的36例（62%）中发现。突变在小管内型（24/32，75%）和复杂型病变（4/6，67%）中较常见，但在小管周围型病变中明显较少见（8/20，40%）。基于显微解剖的分析表明，MED 12突变仅限于叶状肿瘤和纤维腺瘤的基质成分。MED 12突变在乳腺叶状肿瘤中很常见，无论肿瘤分级如何。叶状肿瘤和纤维腺瘤至少部分地共享共同的遗传背景。
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. Forty-six phyllodes tumours and 58 fibroadenomas of the breast were analysed for MED12 mutations by using Sanger sequencing. 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. 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.