https://scholars.lib.ntu.edu.tw/handle/123456789/515736
標題: | MED12 exon 2 mutation as a highly sensitive and specific marker in distinguishing phyllodes tumours from other spindle neoplasms of the breast | 作者: | HUANG-CHUN LIEN CHIUN-SHENG HUANG YA-WEN YANG YUNG-MING JENG |
公開日期: | 2016 | 卷: | 124 | 期: | 5 | 起(迄)頁: | 356-364 | 來源出版物: | APMIS | 摘要: | 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. ? 2016 APMIS Published by John Wiley & Sons Ltd. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/515736 | ISSN: | 0903-4641 | DOI: | 10.1111/apm.12516 | SDG/關鍵字: | CD31 antigen; CD34 antigen; desmin; protein bcl 2; protein S 100; MED12 protein, human; mediator complex; Article; breast biopsy; breast carcinoma; cancer diagnosis; cancer surgery; cystosarcoma phylloides; differential diagnosis; fibromatosis; gene; gene sequence; human; human tissue; major clinical study; MED12 exon 2 gene; metaplastic breast carcinoma; missense mutation; mutational analysis; primary nonspecific sarcoma; priority journal; sarcoma; Breast Neoplasms; DNA sequence; exon; female; genetics; molecular pathology; mutation; pathology; Phyllodes Tumor; procedures; Breast Neoplasms; Diagnosis, Differential; Exons; Female; Humans; Mediator Complex; Mutation; Pathology, Molecular; Phyllodes Tumor; Sequence Analysis, DNA |
顯示於: | 醫學院附設醫院 (臺大醫院) |
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