title: Tuberous sclerosis complex: tumors and tumorigenesis.
abstract: Tuberous sclerosis complex (TSC) is an inherited disorder characterized by hamartomas in different body organs, mainly in the brain, skin, kidney, liver, lung, and heart. The clinical manifestations of TSC are the result of a mutation of one of two tumor suppressor genes, TSC1 and TSC2. Cutaneous findings in TSC should be regarded as cutaneous signs of a pivotal systemic disease. The authors elucidate the variety of neoplasms seen in TSC patients, along with their clinical significance, and suggest suitable evaluation and management strategies.
authors.affiliation: Department of Child Neurology, Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Julita
authors.initials: J
authors.lastname: Borkowska
authors.forename: Robert A
authors.initials: RA
authors.lastname: Schwartz
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kotulska
authors.forename: Sergiusz
authors.initials: S
authors.lastname: Jozwiak
mesh_terms: D018207:Angiomyolipoma / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001932:Brain Neoplasms / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D002471:Cell Transformation, Neoplastic / Q000187:drug effects / Q000235:genetics*; D005260:Female; D006338:Heart Neoplasms / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics; D008175:Lung Neoplasms / Q000188:drug therapy / Q000235:genetics; D018192:Lymphangioleiomyomatosis / Q000188:drug therapy / Q000235:genetics; D008297:Male; D009154:Mutation; D011859:Radiography; D012207:Rhabdomyoma / Q000188:drug therapy / Q000235:genetics; D020123:Sirolimus / Q000627:therapeutic use; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D020123:Sirolimus