PMID- 23223565
OWN - NLM
STAT- MEDLINE
DCOM- 20130418
LR  - 20211021
IS  - 1472-4146 (Electronic)
IS  - 0021-9746 (Print)
IS  - 0021-9746 (Linking)
VI  - 66
IP  - 3
DP  - 2013 Mar
TI  - Birt-Hogg-Dube syndrome: clinicopathological features of the lung.
PG  - 178-86
LID - 10.1136/jclinpath-2012-201200 [doi]
AB  - Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant inherited disorder 
      characterised by fibrofolliculomas, renal tumours, pulmonary cysts and 
      pneumothorax. The pulmonary cysts and repeated episodes of pneumothorax are the 
      clinical hallmarks for discovering families affected by the syndrome. This 
      disorder is caused by mutations in the gene coding for folliculin (FLCN). FLCN 
      forms a complex with FLCN-interacting protein 1 (FNIP1) and FNIP2 (also known as 
      FNIPL), and the complex cross-talks with signalling molecules such as 
      5'-AMP-activated protein kinase (AMPK) and the mammalian target of rapamycin 
      (mTOR). Heterozygous Flcn knockout mice and rats with Flcn gene mutations develop 
      renal cysts, adenomas and/or carcinomas. These findings suggest that FLCN 
      functions as a tumour suppressor that inhibits renal carcinogenesis. However, the 
      mechanisms of the formation of pulmonary cysts and pneumothorax associated with 
      heterozygous mutations in FLCN are poorly understood. Resected lung specimens 
      from patients with BHD are often misdiagnosed by pathologists as non-specific 
      blebs or bullae or emphysema, and patients with BHD who have pulmonary cysts and 
      repeated pneumothorax frequently do not receive appropriate medical 
      investigations. This review discusses the clinical and pathological features of 
      lungs of patients with BHD, focusing on the diagnostic pathology and possible 
      mechanisms of cyst formation.
FAU - Furuya, Mitsuko
AU  - Furuya M
AD  - Department of Molecular Pathology, Yokohama City University Graduate School of 
      Medicine, Yokohama, Japan. mfuruya@yokohama-cu.ac.jp
FAU - Nakatani, Yukio
AU  - Nakatani Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20121208
PL  - England
TA  - J Clin Pathol
JT  - Journal of clinical pathology
JID - 0376601
RN  - 0 (FLCN protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Animals
MH  - Birt-Hogg-Dube Syndrome/genetics/metabolism/*pathology
MH  - Cysts/genetics/metabolism/*pathology
MH  - Diagnosis, Differential
MH  - Emphysema/diagnosis
MH  - Female
MH  - Humans
MH  - Lung/metabolism/*pathology
MH  - Lung Diseases/genetics/metabolism/*pathology
MH  - Male
MH  - Mice
MH  - Mice, Knockout
MH  - Mutation
MH  - Pneumonectomy
MH  - Pneumothorax/genetics/metabolism/pathology
MH  - Proto-Oncogene Proteins/genetics/metabolism
MH  - Radiography, Thoracic
MH  - Rats
MH  - Tomography, X-Ray Computed
MH  - Tumor Suppressor Proteins/genetics/metabolism
PMC - PMC3595143
EDAT- 2012/12/12 06:00
MHDA- 2013/04/20 06:00
CRDT- 2012/12/11 06:00
PHST- 2012/12/11 06:00 [entrez]
PHST- 2012/12/12 06:00 [pubmed]
PHST- 2013/04/20 06:00 [medline]
AID - jclinpath-2012-201200 [pii]
AID - 10.1136/jclinpath-2012-201200 [doi]
PST - ppublish
SO  - J Clin Pathol. 2013 Mar;66(3):178-86. doi: 10.1136/jclinpath-2012-201200. Epub 
      2012 Dec 8.