A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma

Yasuto Yagi; Naoko Abeto; Junichi Shiraishi; Chieko Miyata; Satomi Inoue; Haruka Murakami; Moeko Nakashima; Kokichi Sugano; Mineko Ushiama; Teruhiko Yoshida; Kazuki Yamazawa

doi:10.1038/s41439-021-00180-8

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma

Hum Genome Var. 2022 Jan 17;9(1):3. doi: 10.1038/s41439-021-00180-8.

Authors

Yasuto Yagi¹, Naoko Abeto^{2

3}, Junichi Shiraishi², Chieko Miyata⁴, Satomi Inoue⁵, Haruka Murakami⁵, Moeko Nakashima⁵, Kokichi Sugano^{6

7}, Mineko Ushiama⁷, Teruhiko Yoshida⁷, Kazuki Yamazawa⁸

Affiliations

¹ Department of Urology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
² Department of Pathology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
³ Department of Pathology, National Cancer Center Hospital, Tokyo, Japan.
⁴ Department of Palliative Care Medicine, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
⁵ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
⁶ Department of Genetic Medicine, Sasaki Foundation, Kyoundo Hospital, Tokyo, Japan.
⁷ Department of Genetic Medicine and Services, National Cancer Center Hospital, Tokyo, Japan.
⁸ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. kyamazawa@keio.jp.

Abstract

Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of FH, NM_000143.3:c.1013_1014del (p.Ile338Serfs*3), that was also identified in healthy siblings. Identification of genetic causes in the proband helped us to provide relatives with precise genetic counseling and appropriate surveillance programs.

Abstract

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