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

British Journal of Dermatology

Volumn 160, Issue 3, 2009, Pages 707-709

  Badeloe, S ^a   Van Spaendonck Zwarts, K Y ^b   Van Steensel, M A M ^a   Van Marion, A M W ^c   Van Essen, A J ^c   Jonkman, M F ^b   Steijlen, P M ^a   Poblete Gutierrez P ^a   Van Geel, M ^a   Frank, J ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Fumarate hydratase; Hereditary leiomyomatosis and renal cell cancer; Uterine and cutaneous leiomyomas; Wilms tumour

Indexed keywords

DACTINOMYCIN; VINCRISTINE;

ADULT; ARTICLE; CANCER CHEMOTHERAPY; CANCER DIAGNOSIS; CANCER GROWTH; CANCER SURGERY; CASE REPORT; CLINICAL FEATURE; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; KIDNEY CARCINOMA; LEIOMYOMATOSIS; LUNG METASTASIS; NEPHROBLASTOMA; PRIORITY JOURNAL;

ADULT; CARCINOMA, RENAL CELL; DNA MUTATIONAL ANALYSIS; FEMALE; FUMARATE HYDRATASE; HUMANS; KIDNEY NEOPLASMS; LEIOMYOMATOSIS; MUTATION, MISSENSE; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE; WILMS TUMOR;

EID: 60449086915     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.09000.x     Document Type: Article

References (11)

1. Tomlinson IP, Alam NA, Rowan AJ et al. Multiple Leiomyoma Consortium. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002 30 : 406 10.
2. Toro JR, Nickerson ML, Wei MH et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 2003 73 : 95 106.
3. Isaacs JS, Jung YJ, Mole DR et al. HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell 2005 8 : 143 53.
4. Lehtonen HJ, Blanco I, Piulats JM et al. Conventional renal cancer in a patient with fumarate hydratase mutation. Hum Pathol 2007 38 : 793 6.
5. Badeloe S, van Geel M, van Steensel MA et al. Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. Exp Dermatol 2006 15 : 735 41.
6. Alam NA, Rowan AJ, Wortham NC et al. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003 12 : 1241 52.
7. Schedl A. Renal abnormalities and their developmental origin. Nat Rev Genet 2007 8 : 791 802.
8. Ruteshouser EC, Robinson SM, Huff V. Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors. Genes Chromosomes Cancer 2008 47 : 461 70.
9. Wagner KD, Wagner N, Wellmann S et al. Oxygen-regulated expression of the Wilms' tumor suppressor Wt1 involves hypoxia-inducible factor-1 (HIF-1). FASEB J 2003 17 : 1364 6.
10. Karth J, Ferrer FA, Perlman E et al. Coexpression of hypoxia-inducible factor 1-alpha and vascular endothelial growth factor in Wilms' tumor. J Pediatr Surg 2000 35 : 1749 53.
11. Bratslavsky G, Sudarshan S, Neckers L et al. Pseudohypoxic pathways in renal cell carcinoma. Clin Cancer Res 2007 13 : 4667 71.