Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome

Nishimura, Akira; Hirabayashi, Shinsuke; Hasegawa, Daisuke; Yoshida, Kenichi; Shiraishi, Yuichi; Ashiarai, Miho; Hosoya, Yosuke; Fujiwara, Tohru; Harigae, Hideo; Miyano, Satoru; Ogawa, Seishi; Manabe, Atsushi

Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome

Nishimura, Akira; Hirabayashi, Shinsuke; Hasegawa, Daisuke et al.

Pediatric blood & cancer, 2021, 68(2), e28799

Permalink : https://hdl.handle.net/2115/84042

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アクセス権	open access
URI	https://hdl.handle.net/2115/84042
タイトル	Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome
著者	Nishimura, Akira ; Hirabayashi, Shinsuke ; Hasegawa, Daisuke ; Yoshida, Kenichi ; Shiraishi, Yuichi ; Ashiarai, Miho ; Hosoya, Yosuke ; Fujiwara, Tohru ; Harigae, Hideo ; Miyano, Satoru ; Ogawa, Seishi ; Manabe, Atsushi
著者名 Nishimura, Akira
e-Rad_Researcher 50769635 著者名 Hirabayashi, Shinsuke
著者名 Hasegawa, Daisuke
著者名 Yoshida, Kenichi
著者名 Shiraishi, Yuichi
著者名 Ashiarai, Miho
著者名 Hosoya, Yosuke
著者名 Fujiwara, Tohru
著者名 Harigae, Hideo
著者名 Miyano, Satoru
著者名 Ogawa, Seishi
e-Rad_Researcher 20292849 著者名 Manabe, Atsushi
言語	英語
キーワード	monosomy 7
	pearson syndrome
	RUNX1
発行日	2021-02
出版者	John Wiley & Sons
収録物名	Pediatric blood & cancer
巻(号)	68(2)
ページ	e28799
抄録	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 .
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	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 https://doi.org/10.1002/pbc.28799. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions
PISSN	1545-5009
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1002/pbc.28799