@article{b7f6fdfa85f64c20abdbf437f239ec3c,
title = "Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome",
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.",
keywords = "RUNX1, monosomy 7, pearson syndrome",
author = "Akira Nishimura and Shinsuke Hirabayashi and Daisuke Hasegawa and Kenichi Yoshida and Yuichi Shiraishi and Miho Ashiarai and Yosuke Hosoya and Tohru Fujiwara and Hideo Harigae and Satoru Miyano and Seishi Ogawa and Atsushi Manabe",
note = "Funding Information: This work was supported by the Japan Society for the Promotion of Science (JSPS) through Grants‐in‐Aid for Scientific Research (KAKENHI) (grant number 16K21376 and 18K16128 to Shinsuke Hirabayashi, JP26221308 and JP19H05656 to Seishi Ogawa) and also by the Japan Agency for Medical Research and Development (AMED), and the Project for Development of Innovative Research on Cancer Therapeutics (JP 20cm0106501h0005 to Seishi Ogawa). Publisher Copyright: {\textcopyright} 2020 Wiley Periodicals LLC",
year = "2021",
month = feb,
doi = "10.1002/pbc.28799",
language = "English",
volume = "68",
journal = "Pediatric Blood and Cancer",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "2",
}