MED12 exon 2 mutation as a highly sensitive and specific marker in distinguishing phyllodes tumours from other spindle neoplasms of the breast
MED12 exon 2 mutation as a highly sensitive and specific marker in distinguishing phyllodes tumours from other spindle neoplasms of the breast
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DOI：
10.1111/apm.12516
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发表时间：
2016-05-01
期刊：
影响因子：
2.8
通讯作者：
Jeng, Yung-Ming
中科院分区：
文献类型：
--
作者：
Lien, Huang-Chun;Huang, Chiun-Sheng;Jeng, Yung-Ming
乳腺梭形肿瘤（SNB）主要包括化生性乳腺癌（MBC）、叶状肿瘤（PT）、纤维瘤病和原发性非特异性肉瘤（PNS）。在PT中报告了MED 12外显子2突变。由于梭形肿瘤的成分是SNB共有的，我们评估了MED 12外显子2突变在SNB中的诊断用途。我们研究了91例SNB样本的MED 12外显子2突变，包括49例先前分析过的PT病例。使用直接测序鉴定突变。MBC、纤维瘤病和PNS均无MED 12外显子2突变，而PT的阳性率为71.4%。在6例先前诊断的双相肉瘤性MCB病例中的4例中确定了MED 12突变，然而，基于额外的bcl-2染色，这4例病例被修订为恶性PT，尽管非常局灶性。在所有20例受试PT病例中观察到配对空芯针活检和手术标本之间MED 12突变状态的一致性。总之，我们证明了MED 12外显子2突变仅限于PT（73.6%，39/53），在其他SNB中不存在。MED 12外显子2突变分析可纳入PT和其他SNB之间的鉴别诊断，尤其是在诊断线索不明显的有限标本中。
Spindle neoplasms of the breast (SNB) primarily include metaplastic breast carcinoma (MBC), phyllodes tumour (PT), fibromatosis and primary nonspecific sarcoma (PNS). Mutations in MED12 exon 2 have been reported in PTs. Because spindle tumour components are shared by SNB, we assessed the diagnostic use of MED12 exon 2 mutation in SNB. We investigated MED12 exon 2 mutations in a total of 91 samples of SNB, including 49 PT cases that have been previously analysed. Mutations were identified using direct sequencing. MED12 exon 2 mutation was absent in all cases of MBC, fibromatosis and PNS, in contrast to the 71.4% positivity in PTs. MED12 mutations were identified in four of six previously diagnosed monophasic sarcomatous MCB cases, however, these four cases were revised as malignant PT based on additional bcl-2 staining, albeit very focal. Consistence in the MED12 mutational status between a paired core biopsy and a surgical specimen was observed in all 20 tested PT cases. In conclusion, we demonstrated the restriction of MED12 exon 2 mutation to PTs (73.6%, 39/53) and its absence in other SNB. MED12 exon 2 mutational analysis can be included in the differential diagnosis between PT and other SNB, especially with limited specimen where diagnostic clues are not evident.