Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomasReport as inadecuate

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BMC Research Notes

, 7:203

First Online: 31 March 2014Received: 27 March 2014Accepted: 28 March 2014DOI: 10.1186-1756-0500-7-203

Cite this article as: Kuwada, M., Chihara, Y., Lou, Y. et al. BMC Res Notes 2014 7: 203. doi:10.1186-1756-0500-7-203


BackgroundHereditary leiomyomatosis and renal cell cancer HLRCC is a rare tumor predisposition syndrome characterized by cutaneous and uterine leiomyomas and papillary type 2 renal cell cancer. Germline mutation of the fumarate hydratase FH gene is known to be associated with HLRCC.

Case presentationWe describe a 64-year-old father and his 39-year-old son with HLRCC who developed papillary type 2 RCCs lacking cutaneous leiomyomas at any site. A common missense mutation in the FH gene, c.1021G > A, p.D341N in exon 7, was detected in the 2 cases. Functional prediction with the bioinformatics programs, SIFT and Polyphen-2, reported -damaging SIFT score 0.00- and -probably damaging PSIC score 1.621- values, respectively. In 162 healthy individuals, there were no cases of a G transition to any base. Finally, c.1021G > A in exon 7, was identified as a point mutation.

ConclusionWe report a family with HLRCC in which a novel missense mutation was detected. A familial papillary type 2 renal cancer should be considered HLRCC unless typical cutaneous leiomyomas do not occur.

KeywordsFamilial renal cell cancer Papillary renal cell cancer Fumarate hydratase Missense mutation Electronic supplementary materialThe online version of this article doi:10.1186-1756-0500-7-203 contains supplementary material, which is available to authorized users.

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Author: Masaomi Kuwada - Yoshitomo Chihara - Yi Lou - Kazumasa Torimoto - Yoriaki Kagebayashi - Kenji Tamura - Taro Shuin - Kiyohid


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