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Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation. 2023
Maiko Hirai, and
Hiroshi Yagasaki, and
Koji Kanezawa, and
Masaru Ueno, and
Katsuyoshi Shimozawa, and
Kohsuke Imai, and
Tomohiro Morio, and
Motohiro Kato, and
Yoshihiro Gocho, and
Satoshi Narumi, and
Yasuhiro Ebihara, and
Ichiro Morioka
Department of Pediatrics and Child Health, Nihon University Itabashi Hospital.
Recently, germline mutations in SAMD9 and SAMD9L were increasingly found in children with monosomy 7. We report the outcomes in 2 infants with the SAMD9/SAMD9L variant, 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.
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