Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?

被引：12

作者：

Badeloe, S. ^{[1
,2
]}

van Spaendonck -Zwarts, K. Y. ^{[3
]}

van Steensel, M. A. M. ^{[1
,2
]}

van Marion, A. M. W. ^{[5
]}

van Essen, A. J. ^{[5
]}

Jonkman, M. F. ^{[4
]}

Steijlen, P. M. ^{[1
,2
]}

Poblete -Gutierrez, P. ^{[1
,2
]}

van Geel, M. ^{[1
,2
]}

Frank, J. ^{[1
,2
]}

机构：

[1] Maastricht Univ, Ctr Mol Dermatol, NL-6202 AZ Maastricht, Netherlands

[2] Univ Med Ctr Maastricht, GROW Sch Oncol & Dev Biol, NL-6202 AZ Maastricht, Netherlands

[3] Univ Groningen, Dept Genet, Univ Med Ctr Groningen, Groningen, Netherlands

[4] Univ Groningen, Dept Dermatol, Univ Med Ctr Groningen, Groningen, Netherlands

[5] Univ Med Ctr Maastricht, Dept Pathol, Maastricht, Netherlands

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2009年 / 160卷 / 03期

关键词：

fumarate hydratase; hereditary leiomyomatosis and renal cell cancer; uterine and cutaneous leiomyomas; Wilms tumour; FUMARATE-HYDRATASE GENE; MUTATIONS; WT1;

D O I：

10.1111/j.1365-2133.2008.09000.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100227 [皮肤病学];

摘要：

[No abstract available]

引用

页码：707 / 709

页数：3

共 11 条

[1]

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency [J].

Alam, NA ;

Rowan, AJ ;

Wortham, NC ;

Pollard, PJ ;

Mitchell, M ;

Tyrer, JP ;

Barclay, E ;

Calonje, E ;

Manek, S ;

Adams, SJ ;

Bowers, PW ;

Burrows, NP ;

Charles-Holmes, R ;

Cook, LJ ;

Daly, BM ;

Ford, GP ;

Fuller, LC ;

Hadfield-Jones, SE ;

Hardwick, N ;

Highet, AS ;

Keefe, M ;

MacDonald-Hull, SP ;

Potts, EDA ;

Crone, M ;

Wilkinson, S ;

Camacho-Martinez, F ;

Jablonska, S ;

Ratnavel, R ;

MacDonald, A ;

Mann, RJ ;

Grice, K ;

Guillet, G ;

Lewis-Jones, MS ;

McGrath, H ;

Seukeran, DC ;

Morrison, PJ ;

Fleming, S ;

Rahman, S ;

Kelsell, D ;

Leigh, I ;

Olpin, S ;

Tomlinson, IPM .

HUMAN MOLECULAR GENETICS, 2003, 12 (11) :1241-1252

[2]

Diffuse and segmental variants of cutaneous leiomyomatosis:: novel mutations in the fumarate hydratase gene and review of the literature [J].

Badeloe, Sadhanna ;

van Geel, Michel ;

van Steensel, Maurice A. M. ;

Bastida, Jesus ;

Ferrando, Juan ;

Steijlen, Peter M. ;

Frank, Jorge ;

Poblete-Gutierrez, Pamela .

EXPERIMENTAL DERMATOLOGY, 2006, 15 (09) :735-741

[3]

Pseudohypoxic pathways in renal cell carcinoma [J].

Bratslavsky, Gennady ;

Sudarshan, Sunil ;

Neckers, Len ;

Linehan, W. Marston .

CLINICAL CANCER RESEARCH, 2007, 13 (16) :4667-4671

[4]

HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability [J].

Isaacs, JS ;

Jung, YJ ;

Mole, DR ;

Lee, S ;

Torres-Cabala, C ;

Chung, YL ;

Merino, M ;

Trepel, J ;

Zbar, B ;

Toro, J ;

Ratcliffe, PJ ;

Linehan, WM ;

Neckers, L .

CANCER CELL, 2005, 8 (02) :143-153

[5]

Coexpression of hypoxia-inducible factor 1-alpha and vascular endothelial growth factor in Wilms' tumor [J].

Karth, J ;

Ferrer, FA ;

Perlman, E ;

Hanrahan, C ;

Simons, JW ;

Gearhart, JP ;

Rodriguez, R .

JOURNAL OF PEDIATRIC SURGERY, 2000, 35 (12) :1749-1753

[6]

Conventional renal cancer in a patient with fumarate hydratase mutation [J].

Lehtonen, Heli J. ;

Blanco, Ignacio ;

Piulats, Jose M. ;

Herva, Riitta ;

Launonen, Virpi ;

Aaltonen, Lauri A. .

HUMAN PATHOLOGY, 2007, 38 (05) :793-796

[7]

Wilms tumor genetics:: Mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors [J].

Ruteshouser, E. Cristy ;

Robinson, Stephen M. ;

Huff, Vicki .

GENES CHROMOSOMES & CANCER, 2008, 47 (06) :461-470

[8]

Renal abnormalities and their developmental origin [J].

Schedl, Andreas .

NATURE REVIEWS GENETICS, 2007, 8 (10) :791-802

[9]

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer [J].

Tomlinson, IPM ;

Alam, NA ;

Rowan, AJ ;

Barclay, E ;

Jaeger, EEM ;

Kelsell, D ;

Leigh, I ;

Gorman, P ;

Lamlum, H ;

Rahman, S ;

Roylance, RR ;

Olpin, S ;

Bevan, S ;

Barker, K ;

Hearle, N ;

Houlston, RS ;

Kiuru, M ;

Lehtonen, R ;

Karhu, A ;

Vilkki, S ;

Laiho, P ;

Eklund, C ;

Vierimaa, O ;

Aittomäki, K ;

Hietala, M ;

Sistonen, P ;

Paetau, A ;

Salovaara, R ;

Herva, R ;

Launonen, V ;

Aaltonen, LA .

NATURE GENETICS, 2002, 30 (04) :406-410

[10]

Mutations in the Fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America [J].

Toro, JR ;

Nickerson, ML ;

Wei, MH ;

Warren, MB ;

Glenn, GM ;

Turner, ML ;

Stewart, L ;

Duray, P ;

Tourre, O ;

Sharma, N ;

Choyke, P ;

Stratton, P ;

Merino, M ;

Walther, MM ;

Linehan, WM ;

Schmidt, LS ;

Zbar, B .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (01) :95-106

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