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Clinical aggressiveness of TP53-wild type Sonic Hedgehog medulloblastoma with MYCN amplification, chromosome 17p loss, and chromothripsis
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  • Yuichi Mitani,
  • Kohei Fukuoka,
  • Makiko Mori,
  • Yuki Arakawa,
  • Yuko Matsushita,
  • Yuko Hibiya,
  • Satoko Honda,
  • Masao Kobayashi,
  • Yutaka Tanami,
  • Yonehiro Kanemura,
  • Atsuko Nakazawa,
  • Jun Kurihara,
  • Katsuyoshi Koh,
  • Koichi Ichimura
Yuichi Mitani
Saitama Children's Medical Center
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Kohei Fukuoka
Saitama Children's Medical Center
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Makiko Mori
Saitama Children's Medical Center
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Yuki Arakawa
Saitama Children's Medical Center
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Yuko Matsushita
National Cancer Center Research Institute
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Yuko Hibiya
National Cancer Center Research Institute
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Satoko Honda
Saitama Children's Medical Center
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Masao Kobayashi
Saitama Children's Medical Center
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Yutaka Tanami
Saitama Children's Medical Center
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Yonehiro Kanemura
National Hospital Organization Osaka National Hospital
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Atsuko Nakazawa
Saitama Kenritsu Shoni Iryo Center
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Jun Kurihara
Saitama Children's Medical Center
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Katsuyoshi Koh
Saitama Children's Medical Center
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Koichi Ichimura
National Cancer Center Research Institute
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Abstract

A recently proposed risk stratification of medulloblastomas has shown that Sonic Hedgehog (SHH) subtype with TP53 mutation is the worst prognostic. Here, we describe the case of a 6-year-old boy with clinically very aggressive SHH medulloblastoma like TP53 mutant, but the genetic status of the case was wild type. Copy number analysis showed MYCN amplification, chromosome 17p loss, and chromothripsis, which are known to be strongly associated with TP53-mutated SHH tumors. The presence of both chromosome 17p loss and chromothripsis in SHH medulloblastoma may suggest a p53 pathway dysregulation regardless of the TP53 status, leading to a much worse prognosis.