Mutational analysis of MED12 in fibroadenomas and phyllodes tumors of the breast by means of targeted next-generation sequencing
Mutational analysis of MED12 in fibroadenomas and phyllodes tumors of the breast by means of targeted next-generation sequencing
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DOI：
10.1007/s10549-015-3469-1
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发表时间：
2015-07-01
影响因子：
3.8
通讯作者：
Noguchi, Shinzaburo
中科院分区：
文献类型：
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作者：
Mishima, Chieko;Kagara, Naofumi;Noguchi, Shinzaburo
我们的目的是分析乳腺纤维腺瘤(FA)和叶状肿瘤(PTS)中的MED12突变，这两种肿瘤密切相关，由上皮和间质成分组成。在FA(n=58)和PTS(n=27)中使用下一代测序进行靶向深度测序。突变型肿瘤在PTS中的发生率(74.1%)显著高于FAs(P=0.016)。(46.6%)。管内型FAs的发生率(69.0%)显著高于管周型、器质性和乳腺病变型(24.1%)。激光显微解剖研究显示，间质细胞，而不是上皮细胞，在FAs和PTS中都含有MED12突变。MED12突变与FAs和PTS的发病机制有关。管内型FAs中MED12突变的频率也很高，这表明它们与PTS关系最密切。因此推测具有MED12突变的FAs更有可能进展为PTS。
We aimed to analyze MED12 mutation in fibroadenomas (FAs) and phyllodes tumors (PTs) of the breast, which are closely related and consist of epithelial and stromal components. Targeted deep-sequencing using next-generation sequencing was performed in FAs (n = 58) and PTs (n = 27). The frequency of MED12 mutant tumors was significantly higher (P = 0.016) in PTs (74.1 %) than in FAs. (46.6 %). As for FAs, this frequency was significantly higher (P = 0.001) for intracanalicular type (69.0 %) than for other histological subtypes such as pericanalicular, organoid, and mastopathic types (24.1 %). Laser microdissection study revealed that stromal cells, but not epithelial cells, harbored MED12 mutations in both FAs and PTs. MED12 mutation is implicated in the pathogenesis of both FAs and PTs. The similarly high frequency of MED12 mutation in intracanalicular type FAs suggests that they are most closely related to PTs. It is thus speculated that FAs with MED12 mutation are more likely to progress to PTs.