平滑肌瘤病
医学
种系突变
生殖系
肾细胞癌
基因检测
癌症
病理
肿瘤科
突变
肾
内科学
平滑肌瘤
遗传学
基因
生物
作者
Viral M Patel,Marc Z. Handler,Robert A. Schwartz,W. Clark Lambert
标识
DOI:10.1016/j.jaad.2017.01.023
摘要
Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a rare genetic disorder that predisposes individuals to multiple cutaneous leiomyomas, renal cell carcinomas, and in women, uterine leiomyomas. Also known as Reed syndrome, it is caused by a germline heterozygous mutation of the fumarate hydratase tumor suppressor gene. HLRCC is associated with significant morbidity because of pain from cutaneous and uterine leiomyomas, the cutaneous pain often of unique character. Although genetic testing is currently considered the criterion standard to diagnose HLRCC, newer immunohistochemistry markers may provide rapid and cost effective alternatives to genetic testing. Because of the potentially aggressive nature of renal cell carcinomas that develop as early as in childhood, close annual cancer surveillance is desirable in individuals with HLRCC. In this review, we offer an update and an approach to the diagnosis, management, and renal cancer surveillance in HLRCC.
科研通智能强力驱动
Strongly Powered by AbleSci AI