A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling
A Japanese case of familial malignant melanoma with germline CDK4 variant incidentally diagnosed by cancer genome profiling
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日本一例通过癌症基因组分析偶然诊断出带有种系 CDK4 变异的家族性恶性黑色素瘤病例
DOI：
10.1038/s10038-022-01110-4
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发表时间：
2023
影响因子：
3.5
通讯作者：
Matsubayashi Hiroyuki
中科院分区：
文献类型：
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作者：
Kiyozumi Yoshimi;Goto Keisuke;Yoshikawa Shusuke;Kiyohara Yoshio;Tsushima Takahiro;Kado Nobuhiro;Nishimura Seiichiro;Higashigawa Satomi;Harada Rina;Kunitomo Kana;Fukuzaki Naomi;Matsubayashi Hiroyuki
家族性恶性黑色素瘤(FMM)是一种遗传性肿瘤，在日本非常罕见；到目前为止，胚系CDK4变异在世界各地几乎没有报道。因此，我们报告了一名患有FMM的女性患者，她患上了唾液腺癌，CDK4的一种胚系致病变异通过全面的基因组图谱偶然被鉴定出来。自从30岁的 S以来，她有多个不典型痣和面部黑色素瘤的病史，并有多个黑色素瘤家族史；然而，她的亲戚都不知道它的遗传。进行遗传咨询和皮肤监测。癌症的精准医学可以发现这种罕见的遗传综合征，并为我们提供了管理患者及其亲属健康的机会。
Familial malignant melanoma (FMM) is a hereditary tumor that is quite rare in Japan; to date, the germlineCDK4variant has scarcely been reported around the world. Thus, we report on a woman with FMM who developed salivary gland cancer, for which a germline pathogenic variant ofCDK4was incidentally identified through comprehensive genomic profiling. She had a history of multiple atypical nevi and a facial melanoma since her 30 s and multiple family histories of melanoma; however, none of her relatives were aware of its heredity. Genetic counseling and skin surveillance were performed. Precision medicine for cancer can discover this rare genetic syndrome and provides us with the opportunity to manage the health of patients and their relatives.