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Observation of notable therapeutic response in a patient with systemic juvenile xanthogranuloma with KIF5B-ALK fusion
  • +13
  • Minako Sugiyama,
  • Shinsuke Hirabayashi,
  • Yukitomo Ishi,
  • Junko Kikuchi,
  • Ayako Ishikura,
  • Hiroaki Motegi,
  • Yuki Ueda,
  • Saori Sawai,
  • Kazuya Hara,
  • Yukayo Terashita,
  • Yuko Cho,
  • Emi Takakuwa,
  • Shohei Honda,
  • Shigeru Yamaguchi,
  • Ichiro Kinoshita,
  • Atsushi Manabe
Minako Sugiyama
Hokkaido University Hospital

Corresponding Author:s-minako@huhp.hokudai.ac.jp

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Shinsuke Hirabayashi
Hokkaido University Hospital
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Yukitomo Ishi
Faculty of Medicine, Hokkaido University
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Junko Kikuchi
Hokkaido University Hospital
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Ayako Ishikura
Hakodate Central General Hospital
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Hiroaki Motegi
Faculty of Medicine, Hokkaido University
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Yuki Ueda
Hokkaido University Hospital
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Saori Sawai
Hokkaido University Hospital
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Kazuya Hara
Hokkaido University Hospital
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Yukayo Terashita
Hokkaido University Hospital
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Yuko Cho
Hokkaido University Hospital
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Emi Takakuwa
Hokkaido University Hospital
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Shohei Honda
Hokkaido University Hospital
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Shigeru Yamaguchi
Faculty of Medicine, Hokkaido University
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Ichiro Kinoshita
Hokkaido University Hospital
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Atsushi Manabe
Hokkaido University Hospital
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Abstract

We report the case of a 1-year-old male patient with systemic juvenile xanthogranuloma in whom central nervous system lesions caused developmental retardation, spasticity and clonus of the lower extremities. He needed tube feeding and experienced severe bronchitis and generalised convulsive seizure. KIF5B-ALK fusion was identified in the cutaneous lesion, and he was administered alectinib, an ALK inhibitor. Two months after the initiation of alectinib administration, the central nervous system lesions achieved partial regression. The spasticity and clonus were also relieved. A high index of cognition is needed for ALK fusion in infants with histiocytosis.