title: Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.
abstract: Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant disease characterised by benign cutaneous lesions, pulmonary cysts, and an increased risk of renal tumors. This rare condition is due to a mutation in the folliculin (FLCN) gene on chromosome 17q11.2, which has a role in the mechanistic/mammalian target of rapamycin (mTOR) signaling pathway of tumorigenesis. This case illustrates a patient with BHD and a renal angiomyolipoma, a neoplastic lesion not usually associated with BHD but common in Tuberous Sclerosis Complex (TSC). There is both clinical and molecular overlap between BHD and TSC, which may arise from similarities in function of the TSC and FLCN proteins in the mTOR pathway; this case further demonstrates this potential correlation. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
authors.forename: Eryn
authors.initials: E
authors.lastname: Dow
authors.affiliation: Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Melbourne, Victoria, Australia.|Department of Medicine, University of Melbourne, Parkville, Victoria, Australia.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Winship
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D018207:Angiomyolipoma / Q000175:diagnosis*; D001706:Biopsy; D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins
keywords: Birt-Hogg-Dube syndrome; mTOR; renal angiomyolipoma; tuberous sclerosis complex