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Cerebral Cavernomas in a Family with Multiple Cutaneous and Uterine Leiomyomas Associated with a New Mutation in the Fumarate Hydratase Gene

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

 

Journal of Investigative Dermatology (2007) 127, 2271–2273

 

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ABSTRACT

Solitary or multiple cutaneous leiomyomas are benign tumors derived from vascular, areolar, dartos, or pilar smooth muscle fibers (Holst et al., 2002), which can be part of a syndrome when associated with MCUL (Garman et al., 2003). Furthermore, 15–62% of MCUL patients may develop a papillary renal type II or renal duct cancer HLRCC configuring a more complex entity (MCUL/HLRCC, OMIM 150800) (Toro, 2003). This syndrome is due to heterozygous mutations in the FH gene (Kiuru et al., 2001; Tomlinson et al., 2002), which acts as a tumor-suppressor gene to protect cells from hypoxic stress (Pollard, 2005). Homozygous mutations cause a complete FHD syndrome (FHD; OMIM 606812), which is lethal in childhood (Bourgeron et al., 1994). FH enzymatic activity is absent in FHD, reduced by nearly 50% in MCUL/HLRCC, and very low or absent in tumors from MCUL patients (Tomlinson et al., 2002), suggesting loss of heterozygosity. Besides FH, a number of different Krebs cycle genes have also been found to be mutated in neoplasms, such as SDH in paraganglioma and pheochromocytoma (Baysal, 2000; Niemann and Muller, 2000); or in neo or hyper vascular conditions such as in VHL syndrome (Kim and Kaelin, 2004).


REFERENCES

Baysal BE (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848

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

Garman ME, Blumberg MA, Ernst R, Raimer SS (2003) Familial leiomyomatosis: a review and discussion of pathogenesis. Dermatology 207:210–3

Hatch MD (1978) A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts. Anal Biochem 85:271–5

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

Kim WY, Kaelin WG (2004) Role of VHL gene mutation in human cancer. J Clin Oncol 22:4991

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

Niemann S, Muller U (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26:268–70

Pollard PJ (2005) Accumulation of Krebs cycle intermediates and over-expression of HIF1[alpha] in tumors which result from germline FH and SDH mutations. Hum Mol Genet 14:2231

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

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

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