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以及口腔黏膜黑色素瘤中的突变与文献系统综述。

and mutations in oral mucosal melanoma and a systematic review of the literature.

作者信息

Chen Feng, Zhang Qian, Wang Yanjin, Wang Siwen, Feng Shawein, Qi Liyuan, Li Xuefen, Ding Chong

机构信息

Center Laboratory, Peking University Hospital of Stomatology, Haidian, Beijing 100081, P.R. China.

National Engineering Laboratory for Digital and Material Technology of Stomatology, Peking University Hospital of Stomatology, Haidian, Beijing 100081, P.R. China.

出版信息

Oncol Lett. 2018 Jun;15(6):9786-9792. doi: 10.3892/ol.2018.8558. Epub 2018 Apr 24.

Abstract

Oral mucosal melanoma (OMM) is an aggressive malignant tumor derived from melanocytes in the oral cavity. The genetic etiology of OMM has not been extensively investigated to date. In the present study, the aim was to detect novel gene mutations in patients with OMM. Mutation analysis of and was conducted by polymerase chain reaction. In addition, the relevant literature was searched using the PubMed database, and previous findings were compared with the results of the present study. Among the 9 patients with OMM examined, and mutations were detected, and these mutations were all observed at a frequency of 11.1% (1/9 patients). Notably, a novel mutation in 2 patients with OMM was identified by exome sequencing. In conclusion, the current study observed and mutations in patients with OMM, which may be of benefit for elucidating the underlying mechanism of OMM pathogenesis.

摘要

口腔黏膜黑色素瘤(OMM)是一种源自口腔黑色素细胞的侵袭性恶性肿瘤。迄今为止,OMM的遗传病因尚未得到广泛研究。在本研究中,目的是检测OMM患者中的新基因突变。通过聚合酶链反应对[具体基因]和[具体基因]进行突变分析。此外,使用PubMed数据库检索相关文献,并将先前的研究结果与本研究结果进行比较。在检查的9例OMM患者中,检测到[具体基因]和[具体基因]突变,这些突变在所有患者中的出现频率均为11.1%(1/9例患者)。值得注意的是,通过外显子组测序在2例OMM患者中鉴定出一种新的[具体基因]突变。总之,本研究在OMM患者中观察到[具体基因]和[具体基因]突变,这可能有助于阐明OMM发病机制的潜在机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d49/5958699/b255608cedba/ol-15-06-9786-g00.jpg

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