Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene [2]

Journal of Investigative Dermatology

Volumn 127, Issue 9, 2007, Pages 2271-2273

  Campione, Elena ^a   Terrinoni, Alessandro ^a   Orlandi, Augusto ^a   Codispoti, Andrea ^a   Melino, Gerry ^a   Bianchi, Luca ^a   Mazzotta, Annamaria ^a   Garaci, Francesco Giuseppe ^a   Ludovici, Andrea ^a   Chimenti, Sergio ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

ADULT; BRAIN TUMOR; CASE REPORT; CEREBRAL CAVERNOMA; FAMILIAL DISEASE; FEMALE; HUMAN; IMMUNOHISTOCHEMISTRY; ITALY; LEIOMYOMATOSIS; LETTER; MALE; MULTIPLE CUTANEOUS LEIOMYOMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SYNDROME DELINEATION; UTERUS MYOMA;

ADULT; FAMILY HEALTH; FEMALE; FUMARATE HYDRATASE; HEMANGIOMA, CAVERNOUS; HUMANS; LEIOMYOMA; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; SKIN NEOPLASMS; UTERINE NEOPLASMS;

EID: 34547909949     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/sj.jid.5700851     Document Type: Letter

References (11)

1. Baysal BE (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848
2. Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P et al. (1994) Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest 93:2514-8
3. Garman ME, Blumberg MA, Ernst R, Raimer SS (2003) Familial leiomyomatosis: a review and discussion of pathogenesis. Dermatology 207:210-3
4. Hatch MD (1978) A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts. Anal Biochem 85:271-5
5. Holst VA, Junkins-Hopkins JM, Elenitsas R (2002) Cutaneous smooth muscle neoplasms: clinical features, histologic findings, and treatment options. J Am Acad Dermatol 46:477-90; quiz, 491-474
6. Kim WY, Kaelin WG (2004) Role of VHL gene mutation in human cancer. J Clin Oncol 22:4991
7. Kiuru M, Launonen V, Hietala M, Aittomaki K, Vierimaa O, Salovaara R et al. (2001) Familial cutaneous leiomyomatosis is a twohit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol 159:825-9
8. Niemann S, Muller U (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26:268-70
9. Pollard PJ (2005) Accumulation of Krebs cycle intermediates and over-expression of HI-F1[alpha] in tumors which result from germline FH and SDH mutations. Hum Mol Genet 14:2231
10. Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D et al. (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata, and papillary renal cell cancer. Nat Genet 30:406-10
11. Toro JR (2003) Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet 73:95