Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings
Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings
复制标题
DOI：
10.1111/iju.13760
复制
发表时间：
2018-09-01
影响因子：
2.6
通讯作者：
Kishida, Takeshi
中科院分区：
文献类型：
--
作者：
Noguchi, Go;Furuya, Mitsuko;Kishida, Takeshi
遗传性平滑肌瘤病和肾细胞癌是一种罕见的遗传性疾病，其特征是皮肤和子宫平滑肌瘤病，以及侵袭性2型乳头状肾细胞癌。这种疾病是由富马酸水合酶基因的种系突变引起的。我们报告一个家族遗传性平滑肌瘤病和肾细胞癌的两个兄弟姐妹。一位34岁女性因肾细胞癌接受肾切除术。患者的姐姐在28岁时被诊断为肾细胞癌，并死于该病。两姐妹都没有明显的皮肤肿瘤。兄弟姐妹的肾细胞癌的组织学表现为高核分级的管状囊性和乳头状结构。免疫染色显示两种肿瘤均无延胡索酸水合酶表达。患者的基因组DNA测序显示富马酸水合酶基因（c.675delT）发生种系突变。虽然没有关于亚洲遗传性平滑肌瘤病和肾细胞癌的流行病学信息，但医生应该意识到，遗传性平滑肌瘤病和肾细胞癌患者可能并不总是存在典型的皮肤平滑肌瘤病。
Hereditary leiomyomatosis and renal cell cancer is a rare genetic disorder characterized by cutaneous and uterine leiomyomatosis, and an aggressive type2 papillary renal cell carcinoma. The disease is caused by a germline mutation in the fumarate hydratase gene. We report a familial hereditary leiomyomatosis and renal cell cancer in two siblings. A 34-year-old woman underwent nephrectomy for treatment of a renal cell carcinoma. The patient's sister had been diagnosed with renal cell carcinoma at 28years-of-age and died of the disease. Neither sister had apparent skin tumors. Histopathology of the renal cell carcinomas of the siblings showed tubulocystic and papillary architectures with high nuclear grades. Immunostaining showed no fumarate hydratase expression in either tumor. Genomic DNA sequencing of the patient showed a germline mutation in the fumarate hydratase gene (c.675delT). Although there is no epidemiological information on Asian hereditary leiomyomatosis and renal cell cancer, physicians should be aware that typical cutaneous leiomyomatosis might not always be present in patients with hereditary leiomyomatosis and renal cell cancer.