Preferred Label : Hereditary leiomyomatosis and renal cell cancer;
Symbol : HLRCC;
CISMeF acronym : HLRCC; LRCC; MCL; MCUL1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Leiomyomatosis and renal cell cancer, hereditary; MCL; Multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma; MCUL1; Leiomyoma, multiple cutaneous; LRCC;
Description : Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition
syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata
that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of
the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52
years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range,
17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell
carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic
cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some
patients with FH mutations may develop collecting duct renal cell carcinoma. The main
focus of management in HLRCC is prevention of disease and death due to renal cancer
(summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011). For a general
discussion of papillary renal cell carcinoma, see RCCP1 (605074).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the fumarate hydratase gene (FH, 136850.0003);
Neoplasia : Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients);
Laboratory abnormalities : Decreased fumarate hydratase activity;
Prefixed ID : #150800;
Origin ID : 150800;
UMLS CUI : C1708350;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
