Birt-Hogg-Dubé Syndrome: Clinical and Genetic Studies of 20 Families

Leter, Edward M; Koopmans, A.K.; Gille, Johan J. P.; Os, Theo A.M. van; Vittoz, Gabriëlle G; David, E.; Jaspars, Elisabeth H; Postmus, Pieter E.; Moorselaar, R. Jeroen A. van; Craanen, M. E.; Starink, Th. M.; Menko, Fred H.

doi:10.1038/sj.jid.5700959

Cited by 91 publications

(97 citation statements)

References 17 publications

(36 reference statements)

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“…The database lists previously published point mutations, deletions, duplications and splice site mutations in the FLCN gene (Bessis et al, 2006;Cho et al, 2008;Frohlich et al, 2008;Gad et al, 2007,Graham et al, 2005Gunji et al, 2007;Imada et al, 2009;Kawasaki et al, 2005;Khoo et al, 2002;Kim et al, 2008;Lamberti et al, 2005;Leter et al, 2008;Murakami et al, 2007;Nickerson et al, 2002;Painter et al, 2005;Palmirotta et al, 2008;Ren et al, 2008;Schmidt et al, 2005;Toro et al, 2008;van Steensel et al, 2007;Woodward et al, 2008). In addition 10 previously unpublished novel mutations/variants are included.…”

Section: The Flcn Genementioning

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 The version of the database contains 60 previously published mutations and 10 previously unpublished novel germline FLCN mutations.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: The Flcn Genementioning

confidence: 99%

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

et al. 2010

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“…However, some cases have had metastases or a dismal outcome. The presence of clear cell components in renal tumors may reflect the worse prognosis [5,15,25,70].…”

Section: Prognosismentioning

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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“…Family members should be offered these screening examinations as well, usually beginning at age 40 years. 27 It should be recognized that skin lesions may be minimal or absent in some carriers of the mutation. 27 Hereditary Leiomyomatosis/Renal Cell Cancer Syndrome…”

Section: Birt-hogg-dubé Syndromementioning

confidence: 99%

“…6). [25][26][27] The incidence of chromophobe and oncocytic types of renal carcinoma is increased, as is the incidence of lung cysts and spontaneous pneumothorax. Although several cases of medullary carcinoma of the thyroid were noted in the original family reported with this syndrome, to our knowledge it has not been observed since.…”

Section: Birt-hogg-dubé Syndromementioning

confidence: 99%

“…21 What's new Birt-Hogg-Dubé syndrome has been mapped to a mutation in the 17p11.2 gene, which encodes folliculin. 5,6,27 Patient management Patients suspected of having Birt-Hogg-Dubé syndrome should be questioned regarding a personal or family history of kidney cancer or lung disease, specifically spontaneous pneumothorax, bullous emphysema, or lung cysts. Dermatologic evaluation and CT examination for lung cysts and renal abnormalities are recommended for complete assessment.…”

Section: Birt-hogg-dubé Syndromementioning

confidence: 99%

See 1 more Smart Citation

Cutaneous Manifestations of Internal Malignancy

Thiers¹,

Sahn²,

Callen³

2009

CA: A Cancer Journal for Clinicians

126

107

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The skin often mirrors changes in the organism it envelops. Many neoplastic diseases that affect internal organs display cutaneous manifestations, which may be the presenting signs and symptoms of the underlying malignancy. These may reflect direct involvement of the skin by the tumor (ie, tumor metastasis) or indirect involvement, in which changes in the skin occur in the absence of malignant cells. This review focuses on the latter conditions, which are often referred to as paraneoplastic dermatoses. Included in the discussion are the cutaneous manifestations of inherited syndromes that are associated with an increased risk of internal malignancy, cutaneous changes in patients with hormone-secreting tumors, and the wide spectrum of proliferative and inflammatory dermatoses that have been associated with internal cancer. CA Cancer J Clin 2009;59:73-98.

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Birt-Hogg-Dubé Syndrome: Clinical and Genetic Studies of 20 Families

Cited by 91 publications

References 17 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

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

Cutaneous Manifestations of Internal Malignancy

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