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Identification of RCC1- LCK as a novel fusion gene in pediatric erythroid sarcoma
  • +9
  • Satoru Oya,
  • Shinya Osone,
  • Masanori Yoshida,
  • Sota Nishimoto,
  • Yoshihiro Taura,
  • Hideki Yoshida,
  • Mitsuru Miyachi,
  • Tohru Inaba,
  • Eiichi Konishi,
  • Motohiro Kato,
  • Toshihiko Imamura,
  • Tomoko Iehara
Satoru Oya
Kyoto Prefectural University of Medicine School of Medicine Graduate School of Medical Science

Corresponding Author:satoru-o@koto.kpu-m.ac.jp

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Shinya Osone
Kyoto Prefectural University of Medicine, Graduate School of Medical Science
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Masanori Yoshida
National Center for Child Health and Development
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Sota Nishimoto
Kyoto Prefectural University of Medicine
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Yoshihiro Taura
Kyoto Prefectural University of Medicine School of Medicine Graduate School of Medical Science
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Hideki Yoshida
Kyoto Prefectural University of Medicine
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Mitsuru Miyachi
Kyoto Prefectural University of Medicine
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Tohru Inaba
Kyoto Prefectural University of Medicine
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Eiichi Konishi
Kyoto Prefectural University of Medicine
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Motohiro Kato
The University of Tokyo
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Toshihiko Imamura
Kyoto Prefectural University of Medicine
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Tomoko Iehara
Kyoto Prefectural University of Medicine
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Abstract

Erythroid sarcoma is very rare form of pure erythroid leukemia with undetermined biological features. Here, we present an infant with a multifocal erythroid sarcoma, diagnosed because the tumor cells were positive for glycophorin A. After acute myeloid leukemia-oriented chemotherapy and surgical resection followed by cord blood transplantation, he has successfully maintained complete remission without any late effects. Total transcriptome analysis of the tumor identified a novel fusion gene, RCC1-LCK, and high LCK expression levels, suggesting that LCK overexpression was involved in leukemogenesis in this case.
10 Apr 2022Submitted to Pediatric Blood & Cancer
10 Apr 2022Submission Checks Completed
10 Apr 2022Assigned to Editor
15 Apr 2022Reviewer(s) Assigned
03 May 2022Review(s) Completed, Editorial Evaluation Pending
05 May 2022Editorial Decision: Revise Major
27 May 2022Submission Checks Completed
27 May 2022Assigned to Editor
27 May 20221st Revision Received
30 May 2022Review(s) Completed, Editorial Evaluation Pending
30 May 2022Editorial Decision: Accept
Sep 2022Published in Pediatric Blood & Cancer volume 69 issue 9. 10.1002/pbc.29848