title: Sirolimus therapy for fibromatosis and multifocal renal cell carcinoma in a child with tuberous sclerosis complex.
abstract: A male with tuberous sclerosis complex (TSC) developed a chest wall fibromatosis and bilateral multifocal renal cell carcinoma (RCC). The fibromatosis tumor was initially resected during infancy but recurred 5 years later. At that time, bilateral RCC was also detected, leading to the resection of the more extensively affected right kidney. In an attempt to avoid bilateral nephrectomies, the patient was treated with the mTOR inhibitor sirolimus. Within 6 months of therapy, the fibromatosis and remaining RCC tumors responded substantially with minimal adverse effects.
authors.affiliation: Division of Hematology-Oncology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA. jpressey@uab.edu
authors.forename: Joseph G
authors.initials: JG
authors.lastname: Pressey
authors.forename: Jordan M
authors.initials: JM
authors.lastname: Wright
authors.forename: James I
authors.initials: JI
authors.lastname: Geller
authors.forename: David B
authors.initials: DB
authors.lastname: Joseph
authors.forename: Christine S
authors.initials: CS
authors.lastname: Pressey
authors.forename: David R
authors.initials: DR
authors.lastname: Kelly
mesh_terms: D000903:Antibiotics, Antineoplastic / Q000627:therapeutic use*; D002292:Carcinoma, Renal Cell / Q000188:drug therapy* / Q000209:etiology / Q000473:pathology; D002648:Child; D005350:Fibroma / Q000151:congenital / Q000188:drug therapy* / Q000473:pathology; D006801:Humans; D007680:Kidney Neoplasms / Q000188:drug therapy* / Q000209:etiology / Q000473:pathology; D019656:Loss of Heterozygosity; D008297:Male; D020123:Sirolimus / Q000627:therapeutic use*; D035441:Thoracic Wall / Q000473:pathology; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D000903:Antibiotics, Antineoplastic; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D020123:Sirolimus