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Article

Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.

Pediatric blood & cancer - 1 Feb 2021

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

Abstract excerpt

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...

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Identifiers

PMID: 33200495
DOI: 10.1002/pbc.28799

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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