Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas

Masaomi Kuwada, Yoshitomo Chihara, Yi Lou, Kazumasa Torimoto, Yoriaki Kagebayashi, Kenji Tamura, Taro Shuin, Kiyohide Fujimoto, Hiroki Kuniyasu, Shoji Samma
2014 BMC Research Notes  
Hereditary 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 presentation: We 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,
more » ... 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. Conclusion: We 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.
doi:10.1186/1756-0500-7-203 pmid:24684806 pmcid:PMC3978052 fatcat:vxz3nlq45ngk7c5urawpkixtnq