FLCN gene-mutated renal cell neoplasms: Mother and daughter cases with a novel germline mutation

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F12%3A10124458" target="_blank" >RIV/00216208:11140/12:10124458 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1111/j.1442-2042.2011.02945.x" target="_blank" >http://dx.doi.org/10.1111/j.1442-2042.2011.02945.x</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/j.1442-2042.2011.02945.x" target="_blank" >10.1111/j.1442-2042.2011.02945.x</a>

Jazyk výsledku

angličtina

Název v původním jazyce

FLCN gene-mutated renal cell neoplasms: Mother and daughter cases with a novel germline mutation

Popis výsledku v původním jazyce

Birt-Hogg-Dube syndrome is a familial genodermatosis, of which patients frequently develop renal neoplasms, fibrofolliculomas and pneumatocele. Here, we report a mother and daughter with renal neoplasms surgically resected (69 and 46 years-of-age at surgery, respectively). The mother's tumor was diagnosed as an unclassified type renal cell carcinoma associated with microscopic tumorous nodules, whereas the daughter's tumor was a hybrid oncocytic/chromophobe tumor. The germline mutation analysis of the responsible gene, FCLN (the folliculin gene), showed a deletion of 18 bp in exon 5 (c.332_349del/p.H111_Q116del), predicting an alteration of the amino acid sequence of HPSHPQ replaced by a single amino acid, L. This is a novel germline mutation of the FCLN gene that has not been previously reported.

Název v anglickém jazyce

FLCN gene-mutated renal cell neoplasms: Mother and daughter cases with a novel germline mutation

Popis výsledku anglicky

Birt-Hogg-Dube syndrome is a familial genodermatosis, of which patients frequently develop renal neoplasms, fibrofolliculomas and pneumatocele. Here, we report a mother and daughter with renal neoplasms surgically resected (69 and 46 years-of-age at surgery, respectively). The mother's tumor was diagnosed as an unclassified type renal cell carcinoma associated with microscopic tumorous nodules, whereas the daughter's tumor was a hybrid oncocytic/chromophobe tumor. The germline mutation analysis of the responsible gene, FCLN (the folliculin gene), showed a deletion of 18 bp in exon 5 (c.332_349del/p.H111_Q116del), predicting an alteration of the amino acid sequence of HPSHPQ replaced by a single amino acid, L. This is a novel germline mutation of the FCLN gene that has not been previously reported.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FP - Ostatní lékařské obory

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2012

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

International Journal of Urology

ISSN

0919-8172

e-ISSN

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Svazek periodika

19

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

3

Strana od-do

468-470

Kód UT WoS článku

000303051700013

EID výsledku v databázi Scopus

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