Hereditary leiomyomatosis and renal cell cancer
- Synonyms
- Cutaneous leiomyomata with uterine leiomyomata; Familial leiomyomatosis; Leiomyoma, hereditary multiple, of skin; Leiomyoma, multiple cutaneous; MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA; Multiple cutaneous and uterine leiomyomata; Multiple cutaneous and uterine leiomyomatosis; Multiple cutaneous leiomyomas; Reed syndrome
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Junne Kamihara
- Kris Ann Schultz
- Huma Q Rana
- view full author information
Available tests
96 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of metabolism/homeostasis
- Decreased fumarate hydratase activity
Decreased fumarate hydratase activity
- MedGen UID: 343007
- Concept ID: C1853903
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased fumarate hydratase activity
- Neoplasm
- Cutaneous leiomyoma
Cutaneous leiomyoma
- MedGen UID: 87533
- Concept ID: C0346064
- Finding: Neoplastic Process
Neoplasm
- Cutaneous leiomyosarcoma
Cutaneous leiomyosarcoma
- MedGen UID: 87534
- Concept ID: C0346067
- Finding: Neoplastic Process
Neoplasm
- Hereditary leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis and renal cell cancer
- MedGen UID: 353771
- Concept ID: C1708350
- Finding: Neoplastic Process
Neoplasm
- Renal cell carcinoma
Renal cell carcinoma
- MedGen UID: 766
- Concept ID: C0007134
- Finding: Neoplastic Process
Neoplasm
- Uterine leiomyoma
Uterine leiomyoma
- MedGen UID: 21801
- Concept ID: C0042133
- Finding: Neoplastic Process
Neoplasm
- Uterine leiomyosarcoma
Uterine leiomyosarcoma
- MedGen UID: 83679
- Concept ID: C0280631
- Finding: Neoplastic Process
Neoplasm
- Cutaneous leiomyoma
- NCI PDQ, Skin CancerGenetics of Skin Cancer (PDQ®): Health Professional Version
- NCI PDQ, Renal cell carcinoma geneticsGenetics of Renal Cell Carcinoma (PDQ®): Health Professional Version
- NCI PDQ, HLRCC syndromePDQ® Cancer Genetics Editorial Board. PDQ Hereditary Leiomyomatosis and Renal Cell Cancer. Bethesda, MD: National Cancer Institute. Updated <03/08/2021>. Accessed <05/05/2021>.
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
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