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Spontaneous recovery from anemia is often observed within several years of diagnosis. We present the case of a 4\u2010month\u2010old male diagnosed with PS who experienced prolonged severe pancytopenia preceding the emergence of monosomy 7. Whole\u2010exome sequencing identified two somatic mutations, including <jats:italic>RUNX1<\/jats:italic> 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 .<\/jats:p>","DOI":"10.1002\/pbc.28799","type":"journal-article","created":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T05:23:24Z","timestamp":1605590604000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Acquisition of monosomy 7 and a <i>RUNX1<\/i> mutation in Pearson syndrome"],"prefix":"10.1002","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9127-807X","authenticated-orcid":false,"given":"Akira","family":"Nishimura","sequence":"first","affiliation":[{"name":"Department of Pediatrics St. Luke's International Hospital  Tokyo Japan"},{"name":"Department of Pediatrics and Developmental Biology Tokyo Medical and Dental University  Tokyo 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