Hereditary Leiomyomatosis and Renal Cell Cancer; HLRCC / 遺伝性平滑筋腫症腎細胞癌(hereditary leiomyomatosis and renal cell cancer; HLRCC)
- Resource Type
- Journal Article
- Authors
- Hisashi Hasumi; Masahiro Yao; Mitsuko Furuya; 古屋 充子; 矢尾 正祐; 蓮見 壽史
- Source
- 遺伝性腫瘍 / Journal of Hereditary Tumors. 2021, 21(1):1
- Subject
- Reed syndrome
fumarate hydratase (FH)
hereditary leiomyomatosis and renal cell cancer (HLRCC)
renal cell carcinoma (RCC)
skin leiomyoma
uterine leiomyoma
フマル酸ヒドラターゼ
リード症候群
子宮平滑筋腫
皮膚平滑筋腫
腎細胞癌
遺伝性平滑筋腫症腎細胞癌
- Language
- Japanese
- ISSN
- 2435-6808
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a genetic disorder characterized by cutaneous and uterine leiomyomatosis and kidney cancer. It is also called ‘Reed syndrome’. The disease is caused by the heterozygous mutations in the fumarate hydratase (FH) gene, which is one of the enzymes of the tricarboxylic acid cycle and participates in fundamental metabolic pathways of energy production. HLRCC-associated renal cell carcinomas present highly aggressive and metastatic phenotypes. It is sometimes diagnosed in children and young adults. The early multidisciplinary treatment and family care are therefore very important for the patients with HLRCC as well as for family members at-risk.