Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer

International Journal of Dermatology

Volumn 47, Issue SUPPL. 1, 2008, Pages 18-20

  Badeloe, Sadhanna ^a,b   van Geest, Adrienne J ^a,b   van Marion, Ariënne M W ^a,b   Frank, Jorge ^a,b  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

ADULT; CANCER LOCALIZATION; CANCER SIZE; CASE REPORT; CLINICAL EXAMINATION; CONFERENCE PAPER; DNA DETERMINATION; DNA EXTRACTION; FAMILY HISTORY; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KIDNEY CANCER; KIDNEY SURGERY; LEIOMYOSARCOMA; MALE; MUTATIONAL ANALYSIS; SKIN CANCER; SKIN SURGERY;

ADULT; BIOPSY; FAMILY HEALTH; FUMARATE HYDRATASE; HUMANS; KIDNEY NEOPLASMS; LEIOMYOSARCOMA; MALE; MUTATION; SHOULDER; SKIN NEOPLASMS;

EID: 56049111886     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2008.03952.x     Document Type: Conference Paper

References (20)

1. Holst VA, Junkins-Hopkins JM, Elenitsas R. Cutaneous smooth muscle neoplasms: Clinical features, histologic findings, and treatment options. J Am Acad Dermatol 2002; 46: 477-490; quiz, 91-94.
2. Stout AP, Hill WT. Leiomyosarcoma of the superficial soft tissues. Cancer 1958; 11: 844-854.
3. Guillen DR, Cockerell CJ. Cutaneous and subcutaneous sarcomas. Clin Dermatol 2001; 19: 262-268.
4. Svarvar C, Bohling T, Berlin O, et al. Clinical course of nonvisceral soft tissue leiomyosarcoma in 225 patients from the Scandinavian Sarcoma Group. Cancer 2007; 109: 282-291.
5. Auroy S, Contesso G, Spatz A, et al. [Primary cutaneous leiomyosarcoma: 32 cases]. Ann Dermatol Venereol 1999; 126: 235-242.
6. Limaiem F, Chelly I, Bellil S, et al. Primary cutaneous leiomyosarcoma: a histological and immunohistochemical study of 4 cases. Pathologica 2007; 99: 415-419.
7. Dahl I, Angervall L. Cutaneous and subcutaneous leiomyosarcoma. A clinicopathologic study of 47 patients. Pathol Eur 1974; 9: 307-315.
8. Porter CJ, Januszkiewicz JS. Cutaneous leiomyosarcoma. Plast Reconstr Surg 2002; 109: 964-967.
9. 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.
10. Wei MH, Toure O, Glenn GM, et al. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet 2006; 43: 18-27.
11. Tomlinson IP, Alam NA, Rowan AJ, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002; 30: 406-410.
12. Huter E, Wortham NC, Hartschuh W, et al. Single base mutation in the fumarate hydratase gene leading to segmental cutaneous leiomyomatosis. Acta Derm Venereol 2008; 88: 63-65.
13. Badeloe S, van Geel M, van Steensel MA, Bastida J, Ferrando J, Steijlen PM, 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: 735-741.
14. Ewing B, Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 1998; 8: 186-194.
15. Ewing B, Hillier L, Wendl MC, Green P. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 1998; 8: 175-185.
16. Gordon D, Abajian C, Green P. Consed: A graphical tool for sequence finishing. Genome Res 1998; 8: 195-202.
17. Curry JL, Goulder SJ, Nickoloff BJ. Occurrence of a basal cell carcinoma and dermatofibroma in a smallpox vaccination scar. Dermatol Surg 2008; 34: 132-133; discussion 3-4.
18. Waibel KH, Walsh DS. Smallpox vaccination site complications. Int J Dermatol 2006; 45: 684-688.
19. Banks RE, Tirukonda P, Taylor C, et al. Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res 2006; 66: 2000-2011.
20. Bratslavsky G, Sudarshan S, Neckers L, et al. Pseudohypoxic pathways in renal cell carcinoma. Clin Cancer Res 2007; 13: 4667-4671.