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Epidemiology

Abstract 1844: No evidence for genetic factor increasing renal cell cancer risk in Hereditary Leiomyomatosis and Renal Cell Cancer syndrome

Taru A. Koski, Pia Vahteristo, Laura Näätsaari, Maija Kiuru, Auli Karhu, Riitta Herva, Satu-Leena Sallinen, Outi Vierimaa, Erik Björck, Stéphane Richard, Betty Gardie, Didier Bessis, Emmanuel Van Glabeke, Ignacio Blanco, Richard Houlston, Leigha Senter, Marja Hietala, Kristiina Aittomäki, Lauri A. Aaltonen, Virpi Launonen and Rainer Lehtonen
Taru A. Koski
1University of Helsinki, Helsinki, Finland
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Pia Vahteristo
1University of Helsinki, Helsinki, Finland
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Laura Näätsaari
1University of Helsinki, Helsinki, Finland
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Maija Kiuru
1University of Helsinki, Helsinki, Finland
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Auli Karhu
1University of Helsinki, Helsinki, Finland
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Riitta Herva
2Oulu University Hospital, Oulu, Finland
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Satu-Leena Sallinen
3Tampere University Hospital, Tampere, Finland
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Outi Vierimaa
2Oulu University Hospital, Oulu, Finland
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Erik Björck
4Karolinska Institutet, Stockholm, Sweden
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Stéphane Richard
5Institut de Cancérologie Gustave Roussy, Villejuif, France
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Betty Gardie
5Institut de Cancérologie Gustave Roussy, Villejuif, France
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Didier Bessis
6Université Montpellier 1, Montpellier, France
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Emmanuel Van Glabeke
7Centre Hospitalier André Grégoire, Montreuil sous Bois, France
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Ignacio Blanco
8IDIBELL-Institut Català d'Oncologia, L'Hospitalet de Llobregat, Barcelona, Spain
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Richard Houlston
9Institute of Cancer Research, Surrey, United Kingdom
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Leigha Senter
10The Ohio State University, Columbus, OH
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Marja Hietala
11University of Turku, Turku, Finland
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Kristiina Aittomäki
12Helsinki University Central Hospital, Helsinki, Finland.
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Lauri A. Aaltonen
1University of Helsinki, Helsinki, Finland
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Virpi Launonen
1University of Helsinki, Helsinki, Finland
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Rainer Lehtonen
1University of Helsinki, Helsinki, Finland
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DOI: 10.1158/1538-7445.AM10-1844 Published April 2010
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Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC

Abstract

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary tumor predisposition syndrome with fumarate hydratase (FH), which encodes a tricarboxylic acid cycle enzyme fumarase, as the predisposing gene. The HLRCC family members carry heterozygous germline mutations of the FH gene and the tumors often harbor a second hit making the growth fumarase deficient. The phenotype includes benign cutaneous and uterine leiomyomas as well as renal cell cancer (RCC). The HLRCC related RCCs usually belong to histological papillary type II subtype and are solitary, unilateral and aggressive. The benign leiomyomas are the most common manifestation of the syndrome affecting almost all FH mutation carriers whereas the renal cell cancer phenotype affects only about 20% of the HLRCC families. Interestingly, majority of the families with multiple renal cell cancer cases have concentrated in Finland and the U.S. Why the malignant phenotype affects only a part of the HLRCC patients is unknown. There is no genotype-phenotype correlation and type or site of the FH mutation does not affect the phenotype. The fumarase enzyme activity levels do not correlate with the phenotype either. Thus it is possible that the appearance of RCC requires, in addition to FH mutation, another genetic factor. To search for such a factor in four Finnish HLRCC families with multiple RCC cases we performed genome wide linkage and/or identical by descent (IBD) analyses. After finemapping procedures the only region compatible with linkage was the FH locus itself in 1q43. The genes of the region were screened but no pathognomonic mutations were found. Although these results do not exclude the existence of a genetic RCC risk modifier in HLRCC, the role of FH mutations behind RCC tumors is emphasized. Counseling and genetic testing should be available for HLRCC family members and the FH mutation carriers should be carefully followed up to enable early detection and treatment of the aggressive cancers.

Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr 1844.

  • ©2010 American Association for Cancer Research
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Cancer Research: 70 (8 Supplement)
April 2010
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Abstract 1844: No evidence for genetic factor increasing renal cell cancer risk in Hereditary Leiomyomatosis and Renal Cell Cancer syndrome
Taru A. Koski, Pia Vahteristo, Laura Näätsaari, Maija Kiuru, Auli Karhu, Riitta Herva, Satu-Leena Sallinen, Outi Vierimaa, Erik Björck, Stéphane Richard, Betty Gardie, Didier Bessis, Emmanuel Van Glabeke, Ignacio Blanco, Richard Houlston, Leigha Senter, Marja Hietala, Kristiina Aittomäki, Lauri A. Aaltonen, Virpi Launonen and Rainer Lehtonen
Cancer Res April 15 2010 (70) (8 Supplement) 1844; DOI: 10.1158/1538-7445.AM10-1844

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Abstract 1844: No evidence for genetic factor increasing renal cell cancer risk in Hereditary Leiomyomatosis and Renal Cell Cancer syndrome
Taru A. Koski, Pia Vahteristo, Laura Näätsaari, Maija Kiuru, Auli Karhu, Riitta Herva, Satu-Leena Sallinen, Outi Vierimaa, Erik Björck, Stéphane Richard, Betty Gardie, Didier Bessis, Emmanuel Van Glabeke, Ignacio Blanco, Richard Houlston, Leigha Senter, Marja Hietala, Kristiina Aittomäki, Lauri A. Aaltonen, Virpi Launonen and Rainer Lehtonen
Cancer Res April 15 2010 (70) (8 Supplement) 1844; DOI: 10.1158/1538-7445.AM10-1844
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