Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis.
Multiple cutaneous and uterine leiomyomatosis syndrome (MCUL; OMIM 150800) is an autosomal dominantly inherited tumor predisposition disorder, characterized by leiomyomas of the skin and uterus. When associated with kidney cancer, this syndrome is known as hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839). All disease variants result from heterozygous mutations in the fumarate hydratase (FH) gene. Cutaneous leiomyoma can easily be recognized and confirmed by histological examination. Recognition of these benign skin tumors can lead to the diagnosis of MCUL or HLRCC. Timely diagnosis is crucial for offering affected individuals and families potentially life-saving regular prophylactic screening examinations for renal tumors. Here we provide an overview of clinical and genetic features of this complex tumor syndrome and discuss patient management and current therapeutic strategies.
Badeloe
Sadhanna
S
Department of Dermatology and Maastricht University Center for Molecular Dermatology and GROW - School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands.
Frank
Jorge
J
D015415:Biomarkers / Q000378:metabolism; D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D005649:Fumarate Hydratase / Q000172:deficiency / Q000235:genetics*; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D018231:Leiomyomatosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008661:Metabolism, Inborn Errors / Q000235:genetics; D009154:Mutation; D012878:Skin Neoplasms / Q000235:genetics; D014594:Uterine Neoplasms / Q000235:genetics
D015415:Biomarkers; D005649:Fumarate Hydratase