Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

Betty Gardie ,Y Leport,B Mcgilliwray,P Collignon,F Malthieu,P Vabres,F Caux,E Van Glabeke,J Roume,C Pruvost-Balland,V Joulin,Brigitte Gilbert‐Dussardier ,Abdelhamid Slama ,Sandrine Lefevre ,Laurence Faivre ,Véronica Cusin ,Victoria Perrier-Trudova ,Bruce Poppe ,Bernard Escudier ,Carol Cremin ,Didier Bessis ,Isabelle Coupier ,Johny Bombled ,Michael Field ,Gilbert Lenoir ,A Méjean ,Hélène Dollfus ,Dan Lipsker ,Catherine Dugast ,Bin Tean Teh ,Christine Théodore ,Nicolas Janin ,Min Tan ,Pierre Rustin ,Marie Françoise Avril ,Jean Feunteun ,Christine M Maugard ,Michel Barrois ,Olivier Caron ,Brigitte Bressac‐De Paillerets ,Audrey Remenieras ,Luc Thomas ,Darouna Kattygnarath ,Serena Rooker ,Dominique Leroux ,Nadem Soufir ,Ghislaine Plessis ,Virginie Verkarre ,Isabelle Mortemousque ,Michelle Steinraths ,Jean-Baptiste Méric ,Sophie Deveaux ,Stéphane Richard

doi:10.1136/jmg.2010.085068

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Journal: Journal of Medical Genetics	Publication Date: Mar 25, 2011
Citations: 122	License type: cc-by

Affiliation: Inserm

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BackgroundHereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers...

Highlights

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC, OMIM 605839) is an autosomal dominant familial disorder characterized by the development of cutaneous and uterine leiomyomas, renal cell carcinoma (RCC), and rarely uterine leiomyosarcomas.[1, 2] Hereditary leiomyomatosis and renal cell cancer (HLRCC) was previously called multiple cutaneous and uterine leiomyomatosis (MCUL, OMIM 150800), as the association between skin and uterine leiomyomas was described before the discovery of RCC predisposition
The present study reports the identification and analysis of fumarate hydratase (FH) mutations, including 21novel, in 40 families with MCUL/HLRCC and, for the first time, in 4 patients with isolated PRCCII
We found only one family with large deletion confirming that germline copy loss of FH is a rare genetic event. [6]

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Introduction

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC, OMIM 605839) is an autosomal dominant familial disorder characterized by the development of cutaneous and uterine (fibroid) leiomyomas, renal cell carcinoma (RCC), and rarely uterine leiomyosarcomas.[1, 2] HLRCC was previously called multiple cutaneous and uterine leiomyomatosis (MCUL, OMIM 150800), as the association between skin and uterine leiomyomas was described before the discovery of RCC predisposition. Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers (PRCCII) occur with aggressive course and poor prognosis. HLRCC results from heterozygous germline mutations in the tumor suppressor fumarate hydratase (FH) gene

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