Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome

Roth, Jeffrey S.; Rabinowitz, Asher D.; Benson, Mitchell C.; Grossman, Marc E.

doi:10.1016/s0190-9622(08)82049-x

Cited by 150 publications

(69 citation statements)

References 6 publications

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“…BHD is an autosomal dominant condition characterised by facial fibrofolliculomas, pulmonary cysts with or without pneumothorax and/or renal tumours (Roth et al, 1993;Toro et al, 1999;Zbar et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

et al. 2010

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Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised by the presence of facial fibrofolliculomas, pulmonary cysts which may be associated with spontaneous pneumothorax and renal tumours. Germline mutations in the gene Folliculin (FLCN) were first identified in BHD patients in 2002. In addition FLCN mutations have also been described in families with isolated primary spontaneous pneumothorax (PSP) and also familial clear cell renal carcinomas (FcRCC). We have established a locus-specific database based on the Leiden Open (source) Variation Database (LOVD) software. The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations. The mutations are comprised of deletions (44.3%), substitutions (35.7%), duplications (14.3%) and deletion/insertions (5.7%). The database is accessible online at http://www.lovd.nl/flcn

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Section: Introductionmentioning

confidence: 99%

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

et al. 2010

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“…The BHD-related renal tumors, for example, appear to vary in histological features and have been reported as oncocytoma, papillary RCC and clear cell RCC (Roth et al, 1993;Toro et al, 1999). Lung diseases such as bronchiectasis, bronchospasm (Moreno et al, 1985) and spontaneous pneumothorax (Chung et al, 1996;Toro et al, 1999) have also been associated with BHD patients.…”

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confidence: 99%

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2

et al. 2001

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Birt-Hogg-DubeÂ syndrome (BHD) is an autosomal dominant neoplasia syndrome characterized mainly by benign skin tumors, and to a lesser extent, renal tumors and spontaneous pneumothorax. To map the BHD locus, we performed a genome-wide linkage analysis using polymorphic microsatellite markers on a large Swedish BHD family. Evidence of linkage was identi®ed on chromosome 17p12-q11.2, with a maximum LOD score of 3.58 for marker D17S1852. Further haplotype analysis de®ned a *35 cM candidate interval between the two¯anking markers, D17S1791 and D17S798. This information will facilitate the identi®cation of the BHD gene, leading to the understanding of its underlying molecular etiology. Oncogene (2001) 20, 5239 ± 5242.

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“…The association of renal tumors in BHDS was first described in 1993 [7]. In this article, we present an overview of renal tumors associated with BHDS with a focus on clinical and pathobiological aspects.…”

Section: Introduction and Historymentioning

confidence: 99%

Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects

Furuya¹,

Nagashima²,

Gotohda³

et al. 2014

pjp

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Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant inherited disorder characterized by clinical features of skin lesions, pulmonary lesions and renal tumor. The gene responsible for this syndrome is located on chromosome 17p11.2 and designated as FLCN. In this article, we review renal tumors associated with BHDS with a focus on clinical and pathobiological aspects. Renal tumors often occur multifocally or bilaterally in the imaging analyses or gross examination. Histological examination of renal tumors includes a variety of subtypes such as hybrid oncocytic tumor, chromophobe renal cell carcinoma (RCC), oncocytoma, clear cell RCC and papillary RCC. The histologic discordance in multiple tumors seems to be characteristic of this syndrome. Oncocytosis is observed histologically in about half of the cases. Several investigations have elucidated that folliculin may be involved in the mammalian target of rapamycin (mTOR) pathway recently. Renal tumors composed of clear cells may behave in an aggressive fashion. However, renal tumors including hybrid oncocytic tumor, chromophobe RCC and oncocytoma behave mostly in an indolent fashion.

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Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome

Cited by 150 publications

References 6 publications

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2

Review of renal tumors associated with Birt-Hogg-Dubé syndrome with focus on clinical and pathobiological aspects

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