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Genetic basis of progression and relapse in Clear Cell Sarcoma of the Kidney
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  • Tomoki Yaguchi,
  • Shunsuke Kimura,
  • Masafumi Seki,
  • Masahiro Sekiguchi,
  • Kenichi Yoshida,
  • Yuichi Shiraishi,
  • Keisuke Kataoka,
  • Yoichi Fujii,
  • Yasuo Kubota,
  • Kentaro Watanabe,
  • Mitsuteru Hiwatari,
  • Satoru Miyano,
  • Seishi Ogawa,
  • Junko Takita
Tomoki Yaguchi
The University of Tokyo Graduate School of Medicine School of Medicine Department of Pediatrics
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Shunsuke Kimura
The University of Tokyo Graduate School of Medicine School of Medicine Department of Pediatrics
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Masafumi Seki
The University of Tokyo Graduate School of Medicine School of Medicine Department of Pediatrics
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Masahiro Sekiguchi
The University of Tokyo Graduate School of Medicine School of Medicine Department of Pediatrics
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Kenichi Yoshida
Kyoto University Graduate School of Medicine Faculty of Medicine
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Yuichi Shiraishi
National Cancer Center Research Institute
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Keisuke Kataoka
Kyoto University Graduate School of Medicine Faculty of Medicine
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Yoichi Fujii
Kyoto University Graduate School of Medicine Faculty of Medicine
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Yasuo Kubota
The University of Tokyo Graduate School of Medicine School of Medicine Department of Pediatrics
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Kentaro Watanabe
The University of Tokyo Graduate School of Medicine School of Medicine Department of Pediatrics
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Mitsuteru Hiwatari
The University of Tokyo Graduate School of Medicine School of Medicine Department of Pediatrics
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Satoru Miyano
The University of Tokyo Institute of Medical Science Human Genome Center
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Seishi Ogawa
Kyoto University Graduate School of Medicine Faculty of Medicine
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Junko Takita
Kyoto University Graduate School of Medicine Faculty of Medicine
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Abstract

To elucidate the genetic mechanisms of recurrence and metastasis in clear cell sarcoma of the kidney (CCSK), a dismal pediatric renal cancer, we performed targeted-capture sequencing by pediatric solid tumors panel (381 genes) for multi-sampled tumors including autopsy samples of metastasis extracted from a single case that underwent four relapses. Internal tandem duplication of BCOR (BCOR-ITD) was the only truncal mutation, indicating a strong association with tumorigenesis. Acquisition of additional mutations along tumor relapses and detection of metastasis-specific mutations were reminiscent of the tumor progression and therapeutic resistance of this case, leading to clonal selection and a dismal fate.