Hereditary leiomyomatosis and renal cell cancer

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;

Details

Origin ID

150800;

UMLS CUI

C1708350;

Automatic exact mappings (from CISMeF team)
- Consortium for Molecular and Cellular Characterization of Screen-Detected Lesions [NCIt concept]
- FH wt Allele [NCIt concept]
- Mantle cell lymphoma [ORDO Disease]
- Microliter [NCIt concept]
- lewy body disease [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hereditary Leiomyomatosis and Renal Cell Carcinoma [NCIt concept]
- Hereditary leiomyomatosis and renal cell cancer [ICD-11 More detail]
- Hereditary leiomyomatosis and renal cell cancer [ORDO Disease]
- Hereditary leiomyomatosis and renal cell cancer [MeSH Supplementary Concept]
- Hereditary leiomyomatosis and renal cell cancer [MeSH concept]
- Hereditary leiomyomatosis and renal cell carcinoma (disorder) [SNOMED CT concept]
- Hereditary leiomyomatosis renal cell carcinoma [MedDRA Preferred Term]
- Multiple cutaneous and uterine leiomyomatosis [MedDRA Preferred Term]
- Multiple cutaneous leiomyomas [HPO term]
- Reed syndrome [MedDRA LLT]
- hereditary leiomyomatosis and renal cell cancer syndrome [Disease (Nov.)]
False automatic mappings
- Hereditary leiomyomatosis and renal cell cancer [MeSH concept]
- Hereditary leiomyomatosis and renal cell cancer [MeSH Supplementary Concept]
- Mantle Cell Lymphoma [NCIt concept]
Genes related to phenotype
- Fumarate hydratase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cutaneous leiomyoma [HPO term]
- Cutaneous leiomyosarcoma [HPO term]
- Decreased fumarate hydratase activity [HPO term]
- Incomplete penetrance [HPO term]
- Multiple cutaneous leiomyomas [HPO term]
- Renal cell carcinoma [HPO term]
- Uterine leiomyoma [HPO term]
- Uterine leiomyosarcoma [HPO term]
ORDO concept(s)
- Hereditary leiomyomatosis and renal cell cancer [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Leiomyomatosis and Renal Cell Carcinoma [NCIt concept]
- Hereditary leiomyomatosis and renal cell cancer [MeSH concept]
- Hereditary leiomyomatosis and renal cell cancer [MeSH Supplementary Concept]
- Hereditary leiomyomatosis and renal cell cancer [ORDO Disease]
- Hereditary leiomyomatosis and renal cell cancer [ICD-11 More detail]
- Hereditary leiomyomatosis and renal cell carcinoma (disorder) [SNOMED CT concept]
- Hereditary leiomyomatosis renal cell carcinoma [MedDRA Preferred Term]
- Multiple cutaneous and uterine leiomyomatosis [MedDRA Preferred Term]
- Multiple cutaneous leiomyomas [HPO term]
- Reed syndrome [MedDRA LLT]
- hereditary leiomyomatosis and renal cell cancer syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Per microliter (qualifier value) [SNOMED CT concept]

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