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Hematopoietic stem cell transplantation in two sisters with bone marrow failure associated with POLE gene variants
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  • Kentaro Fujimori,
  • Norihito Ikenobe,
  • Yoshihiro Gocho,
  • Toru Uchiyama,
  • Takao Deguchi,
  • Hirotoshi Sakaguchi,
  • Daisuke Tomizawa,
  • Ichiro Takeuchi,
  • Hirotaka Shimizu,
  • Katsuhiro Arai,
  • Akira Ishiguro,
  • Kimikazu Matsumoto,
  • Akihiro Iguchi
Kentaro Fujimori
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Norihito Ikenobe
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Yoshihiro Gocho
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Toru Uchiyama
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Takao Deguchi
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Hirotoshi Sakaguchi
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Daisuke Tomizawa
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Ichiro Takeuchi
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Hirotaka Shimizu
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Katsuhiro Arai
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Akira Ishiguro
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Kimikazu Matsumoto
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin
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Akihiro Iguchi
Kokuritsu Kenkyu Kaihatsu Hojin Kokuritsu Seiiku Iryo Kenkyu Center Byoin

Corresponding Author:iguchi-a@ncchd.go.jp

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Abstract

POLE codes for DNA polymerase epsilon (Pol ε) and variants of Pol ε catalytic subunit 1 can be pathogenic. We recently reported a novel POLE gene variant (p.[D1131fs];[T1891del]) which leads to bone marrow failure in two Japanese sisters. Here, we describe the successful course of hematopoietic stem cell transplantation of these two sisters. Both cases were born with congenital anemia and remained transfusion dependent. Their bone marrow showed gradually proceeding trilineage dysplasia. They both underwent HCT from an unrelated bone marrow donor and successfully achieved engraftment. Ten and eight years have passed respectively, and they are doing well without transfusion.
Submitted to Pediatric Blood & Cancer
05 Feb 2024Submission Checks Completed
05 Feb 2024Assigned to Editor
05 Feb 20242nd Revision Received
05 Feb 2024Review(s) Completed, Editorial Evaluation Pending
05 Feb 2024Editorial Decision: Accept