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Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome

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Title: Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome
Authors: Nishimura, Akira Browse this author
Hirabayashi, Shinsuke Browse this author →KAKEN DB
Hasegawa, Daisuke Browse this author
Yoshida, Kenichi Browse this author
Shiraishi, Yuichi Browse this author
Ashiarai, Miho Browse this author
Hosoya, Yosuke Browse this author
Fujiwara, Tohru Browse this author
Harigae, Hideo Browse this author
Miyano, Satoru Browse this author
Ogawa, Seishi Browse this author
Manabe, Atsushi Browse this author →KAKEN DB
Keywords: monosomy 7
pearson syndrome
Issue Date: Feb-2021
Publisher: John Wiley & Sons
Journal Title: Pediatric blood & cancer
Volume: 68
Issue: 2
Start Page: e28799
Publisher DOI: 10.1002/pbc.28799
Abstract: Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia is often observed within several years of diagnosis. We present the case of a 4-month-old male diagnosed with PS who experienced prolonged severe pancytopenia preceding the emergence of monosomy 7. Whole-exome sequencing identified two somatic mutations, including RUNX1 p.S100F that was previously reported as associated with myeloid malignancies. The molecular defects associated with PS may have the potential to progress to advanced myelodysplastic syndrome .
Rights: This is the peer reviewed version of the following article: Nishimura, A, Hirabayashi, S, Hasegawa, D, et al. Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome. Pediatr Blood Cancer. 2021; 68:e28799, which has been published in final form at This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions
Type: article (author version)
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 平林 真介

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