关键词： Birt-Hogg-Dube syndrome mTOR renal angiomyolipoma tuberous sclerosis complex

Mesh ： Alleles Amino Acid Substitution Angiomyolipoma / diagnosis Biopsy Birt-Hogg-Dube Syndrome / diagnosis genetics Female Genetic Association Studies Heterozygote Humans Kidney Neoplasms / diagnosis Magnetic Resonance Imaging Male Middle Aged Mutation Proto-Oncogene Proteins / genetics Tomography, X-Ray Computed Tuberous Sclerosis / diagnosis genetics Tumor Suppressor Proteins / genetics

来  源：   DOI：10.1002/ajmg.a.37952   PDF(Sci-hub)

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.
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