PMID- 27643397
OWN - NLM
STAT- MEDLINE
DCOM- 20171026
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 170
IP  - 12
DP  - 2016 Dec
TI  - Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap 
      with tuberous sclerosis complex.
PG  - 3323-3326
LID - 10.1002/ajmg.a.37952 [doi]
AB  - 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. (c) 2016 Wiley Periodicals, 
      Inc.
CI  - (c) 2016 Wiley Periodicals, Inc.
FAU - Dow, Eryn
AU  - Dow E
AD  - Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Melbourne, 
      Victoria, Australia.
FAU - Winship, Ingrid
AU  - Winship I
AD  - Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Melbourne, 
      Victoria, Australia.
AD  - Department of Medicine, University of Melbourne, Parkville, Victoria, Australia.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160919
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (FLCN protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Alleles
MH  - Amino Acid Substitution
MH  - Angiomyolipoma/*diagnosis
MH  - Biopsy
MH  - Birt-Hogg-Dube Syndrome/*diagnosis/*genetics
MH  - Female
MH  - Genetic Association Studies
MH  - Heterozygote
MH  - Humans
MH  - Kidney Neoplasms/*diagnosis
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Proto-Oncogene Proteins/genetics
MH  - Tomography, X-Ray Computed
MH  - Tuberous Sclerosis/*diagnosis/*genetics
MH  - Tumor Suppressor Proteins/genetics
OTO - NOTNLM
OT  - Birt-Hogg-Dube syndrome
OT  - mTOR
OT  - renal angiomyolipoma
OT  - tuberous sclerosis complex
EDAT- 2016/09/20 06:00
MHDA- 2017/10/27 06:00
CRDT- 2016/09/20 06:00
PHST- 2016/04/28 00:00 [received]
PHST- 2016/08/15 00:00 [accepted]
PHST- 2016/09/20 06:00 [pubmed]
PHST- 2017/10/27 06:00 [medline]
PHST- 2016/09/20 06:00 [entrez]
AID - 10.1002/ajmg.a.37952 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2016 Dec;170(12):3323-3326. doi: 10.1002/ajmg.a.37952. Epub 
      2016 Sep 19.