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Birt-Hogg-Dube syndrome: clinicopathological features of the lung.
J Clin Pathol. 2013 Mar; 66(3):178-86.JC

Abstract

Birt-Hogg-Dubé 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.

Authors+Show Affiliations

Department of Molecular Pathology, Yokohama City University Graduate School of Medicine, Yokohama, Japan. mfuruya@yokohama-cu.ac.jpNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

23223565

Citation

Furuya, Mitsuko, and Yukio Nakatani. "Birt-Hogg-Dube Syndrome: Clinicopathological Features of the Lung." Journal of Clinical Pathology, vol. 66, no. 3, 2013, pp. 178-86.
Furuya M, Nakatani Y. Birt-Hogg-Dube syndrome: clinicopathological features of the lung. J Clin Pathol. 2013;66(3):178-86.
Furuya, M., & Nakatani, Y. (2013). Birt-Hogg-Dube syndrome: clinicopathological features of the lung. Journal of Clinical Pathology, 66(3), 178-86. https://doi.org/10.1136/jclinpath-2012-201200
Furuya M, Nakatani Y. Birt-Hogg-Dube Syndrome: Clinicopathological Features of the Lung. J Clin Pathol. 2013;66(3):178-86. PubMed PMID: 23223565.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Birt-Hogg-Dube syndrome: clinicopathological features of the lung. AU - Furuya,Mitsuko, AU - Nakatani,Yukio, Y1 - 2012/12/08/ PY - 2012/12/11/entrez PY - 2012/12/12/pubmed PY - 2013/4/20/medline SP - 178 EP - 86 JF - Journal of clinical pathology JO - J Clin Pathol VL - 66 IS - 3 N2 - Birt-Hogg-Dubé 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. SN - 1472-4146 UR - https://www.unboundmedicine.com/medline/citation/23223565/Birt_Hogg_Dube_syndrome:_clinicopathological_features_of_the_lung_ L2 - https://jcp.bmj.com/lookup/pmidlookup?view=long&pmid=23223565 DB - PRIME DP - Unbound Medicine ER -