| Autor: |
Hirai, Maiko, Yagasaki, Hiroshi, Kanezawa, Koji, Ueno, Masaru, Shimozawa, Katsuyoshi, Imai, Kohsuke, Morio, Tomohiro, Kato, Motohiro, Gocho, Yoshihiro, Narumi, Satoshi, Ebihara, Yasuhiro, Morioka, Ichiro |
| Zdroj: |
Journal of Pediatric Hematology / Oncology; March 2023, Vol. 45 Issue: 2 pe290-e293, 4p |
| Abstrakt: |
Recently, germline mutations in SAMD9and SAMD9Lwere increasingly found in children with monosomy 7. We report the outcomes in 2 infants with the SAMD9/SAMD9Lvariant, who presented with anemia and thrombocytopenia (patient 1), and neutropenia and nonsymptomatic white-matter-encephalopathy (patient 2). Both patients received cord blood transplantation and experienced critical post–cord blood transplantation adverse events; patients 1 and 2 developed fulminant engraftment syndrome and life-threatening graft-versus-host disease, respectively. Of note, selective loss of chromosome 7 in bone marrow–derived CD34+cells was inferred. |
| Databáze: |
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