![]() There was intrafamilial variability, but all families had at least 1 member with multiple cutaneous piloleiomyomas, which manifested between the second and fourth decade of life. (2011) analyzed 14 families from the Netherlands with genetically-confirmed HLRCC. There was significant intrafamilial variability. Four patients had isolated type 2 papillary renal cell carcinoma, indicating that this can be a sole manifestation of the disorder. Twenty (74.1%) of 27 patient died of metastatic renal cell carcinoma. ![]() The average age at diagnosis of renal cell carcinoma was 43 years (range, 28 to 70 years). Uterine leiomyomas occurred in 32 families and in 76 (81.7%) of 93 female affected members renal tumors occurred in 15 (34%) families and in 27 (17.9%) of 151 affected members. Cutaneous leiomyomas occurred in 37 (84.1%) of 44 families and in 102 (67.5%) of 151 affected members. (2011) identified 44 families with genetically-confirmed HLRCC. They suggested that this was part of the phenotypic spectrum of HLRCC.Īs part of the French National Cancer Institute study, Gardie et al. (2006) identified a Leydig cell tumor of the testis. In a 55-year-old man with HLRCC and an N64T mutation in the FH gene (136850.0004), Carvajal-Carmona et al. A second, smaller family was also studied. All these kidney cancers displayed a distinct papillary histology and presented as unilateral solitary lesions that had metastasized at the time of diagnosis. The 4 kidney cancer cases occurred in young (33- to 48-year-old) females and displayed a unique natural history. Seven individuals had a history of cutaneous nodules, 2 of which were confirmed to be cutaneous leiomyomatosis. In the Finnish family they studied, 11 members had uterine leiomyomas and 2 had uterine leiomyosarcoma. (2001) reported the clinical, histopathologic, and molecular features of a cancer syndrome with predisposition to uterine leiomyomas and papillary renal cell carcinoma. (1987) described a nonfamilial case of associated multiple cutaneous leiomyomas and uterine fibromas. Engelke and Christophers (1979) commented on the unusually early age of onset of uterine myofibromas. ![]() (1973) also emphasized the association of uterine myomata. Mezzadra (1965) described 3 generations of an Italian family with cutaneous leiomyomata associated with uterine myomata. (1964) described identical twins with multiple cutaneous leiomyomata and a history of hysterectomy for uterine leiomyomata. ![]() The skin tumors were composed of smooth muscle fibers and were thought to arise from the erector pilorum muscles. The parents and common grandparent were not known to be affected, but all critical individuals were not examined. (1958) described 3 Italian half first cousins with multiple leiomyomata of the skin. 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).įor a general discussion of papillary renal cell carcinoma, see RCCP1 (605074). Some patients with FH mutations may develop collecting duct renal cell carcinoma. 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. 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. Homozygous mutation in the FH gene causes fumarase deficiency (FMRD 606812). LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY LRCCĪ number sign (#) is used with this entry because multiple cutaneous and uterine leiomyomatosis with or without renal cell carcinoma, also referred to as hereditary leiomyomatosis and renal cell cancer (HLRCC), is caused by heterozygous mutation in the gene encoding fumarate hydratase (FH 136850) on chromosome 1q43. MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA MCUL1
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