Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome

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

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


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.

Original languageEnglish
Article numbere28799
JournalPediatric Blood and Cancer
Issue number2
Publication statusPublished - 2021 Feb


  • RUNX1
  • monosomy 7
  • pearson syndrome


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