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A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven
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  • Rieko Taniguchi,
  • Hideki Muramatsu,
  • Yusuke Okuno,
  • Taro Yoshida,
  • Manabu Wakamatsu,
  • Motoharu Hamada,
  • Chiyoe Shirota,
  • Wataru Sumida,
  • Akinari Hinoki,
  • Takahisa Tainaka,
  • Yoshimitsu Gotoh,
  • Toyonori Tsuzuki ,
  • Yukichi Tanaka,
  • Seiji Kojima,
  • Hiroo Uchida,
  • Yoshiyuki Takahashi
Rieko Taniguchi
Nagoya University Graduate School of Medicine Faculty of Medicine

Corresponding Author:riekot@med.nagoya-u.ac.jp

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Hideki Muramatsu
Nagoya University Graduate School of Medicine Faculty of Medicine
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Yusuke Okuno
Nagoya University Hospital
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Taro Yoshida
Nagoya University Graduate School of Medicine Faculty of Medicine
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Manabu Wakamatsu
Nagoya University Graduate School of Medicine Faculty of Medicine
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Motoharu Hamada
Nagoya University Graduate School of Medicine Faculty of Medicine
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Chiyoe Shirota
Nagoya University Graduate School of Medicine Faculty of Medicine
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Wataru Sumida
Nagoya University Graduate School of Medicine Faculty of Medicine
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Akinari Hinoki
Nagoya University Graduate School of Medicine Faculty of Medicine
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Takahisa Tainaka
Nagoya University Graduate School of Medicine Faculty of Medicine
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Yoshimitsu Gotoh
Nagoya Daini Red Cross Hospital
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Toyonori Tsuzuki
Aichi Medical University Hospital
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Yukichi Tanaka
Kanagawa Childrens Medical Center
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Seiji Kojima
Nagoya University Graduate School of Medicine Faculty of Medicine
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Hiroo Uchida
Nagoya University Graduate School of Medicine Faculty of Medicine
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Yoshiyuki Takahashi
Nagoya University Graduate School of Medicine Faculty of Medicine
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Abstract

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by heterozygous germline mutations in the fumarate hydratase (FH) gene and is associated with increased susceptibility to cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma (RCC). This report describes a seven-year-old male who developed a large right kidney tumor with multiple cystic lesions that contained enhanced solid components. Whole-exome sequencing identified his germline mutation in the FH gene and its loss of heterozygosity in the tumor. This was the youngest-onset case of HLRCC-associated RCC to date. This report may affect the starting age for future RCC-surveillance programs for patients with HLRCC.
22 Jun 2021Published in Familial Cancer. 10.1007/s10689-021-00268-8