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

BMC Research Notes

Shoji Samma¹  Hiroki Kuniyasu³  Kiyohide Fujimoto²  Taro Shuin⁴  Kenji Tamura⁴  Yoriaki Kagebayashi¹  Kazumasa Torimoto²  Yi Lou³  Yoshitomo Chihara³  Masaomi Kuwada² 

[1] Department of Urology, Nara Prefectural Nara Hospital, 1-30-1, Hiramatsu, Nara, Japan;Department of Urology, Nara Medical University, 840, Shijyo-cho, Kashihara, Japan;Department of Molecular Pathology, Nara Medical University, 840, Shijyo-cho, Kashihara, Japan;Department of Urology, Kochi Medical School, Nankoku, Kochi, Japan

关键词: Missense mutation;    Fumarate hydratase;    Papillary renal cell cancer;    Familial renal cell cancer;   

Others  :  1134032
DOI  :  10.1186/1756-0500-7-203

 received in 2014-03-27, accepted in 2014-03-28,  发布年份 2014

【 摘 要 】

Background

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, 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.

【 授权许可】

   
2014 Kuwada et al.; licensee BioMed Central Ltd.

【 图 表 】

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