| Title: | Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome |
| Authors: | Nishimura, Akira Browse this author |
| Hirabayashi, Shinsuke Browse this author →KAKEN DB |
| Hasegawa, Daisuke Browse this author |
| Yoshida, Kenichi Browse this author |
| Shiraishi, Yuichi Browse this author |
| Ashiarai, Miho Browse this author |
| Hosoya, Yosuke Browse this author |
| Fujiwara, Tohru Browse this author |
| Harigae, Hideo Browse this author |
| Miyano, Satoru Browse this author |
| Ogawa, Seishi Browse this author |
| Manabe, Atsushi Browse this author →KAKEN DB |
| Keywords: | monosomy 7 |
| pearson syndrome |
| RUNX1 |
| Issue Date: | Feb-2021 |
| Publisher: | John Wiley & Sons |
| Journal Title: | Pediatric blood & cancer |
| Volume: | 68 |
| Issue: | 2 |
| Start Page: | e28799 |
| Publisher DOI: | 10.1002/pbc.28799 |
| 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 . |
| Rights: | 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 |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/84042 |
| Appears in Collections: | 北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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