Abstract
Germline mutations in the fumarate hydratase (FH) gene were recently shown to predispose to the dominantly inherited syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC is characterized by benign leiomyomas of the skin and the uterus, renal cell carcinoma, and uterine leiomyosarcoma. The aim of this study was to identify new families with FH mutations, and to further examine the tumor spectrum associated with FH mutations. FH germline mutations were screened from 89 patients with RCC, skin leiomyomas or ovarian tumors. Subsequently, 13 ovarian and 48 bladder carcinomas were analyzed for somatic FH mutations. Two patients diagnosed with ovarian mucinous cystadenoma (two out of 33, 6%) were found to be FH germline mutation carriers. One of the changes was a novel mutation (Ala231Thr) and the other one (435insAAA) was previously described in FH deficiency families. These results suggest that benign ovarian tumors may be associated with HLRCC.
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Acknowledgements
We thank Gynel Arifdshan for excellent technical assistance. The study was supported by grants from the Academy of Finland (44870/Finnish Center of Excellence Program 2000-2005, 76227, 77547, 213183, 214268), the Sigrid Juselius Foundation, the Cancer Society of Finland, and Helsinki University Central Hospital.
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Ylisaukko-oja, S., Cybulski, C., Lehtonen, R. et al. Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. Eur J Hum Genet 14, 880–883 (2006). https://doi.org/10.1038/sj.ejhg.5201630
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DOI: https://doi.org/10.1038/sj.ejhg.5201630
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