Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation

Maiko Hirai; Hiroshi Yagasaki; Koji Kanezawa; Masaru Ueno; Katsuyoshi Shimozawa; Kohsuke Imai; Tomohiro Morio; Motohiro Kato; Yoshihiro Gocho; Satoshi Narumi; Yasuhiro Ebihara; Ichiro Morioka

doi:10.1097/MPH.0000000000002578

Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation

Maiko Hirai, Hiroshi Yagasaki, Koji Kanezawa, Masaru Ueno, Katsuyoshi Shimozawa, Kohsuke Imai, Tomohiro Morio, Motohiro Kato, Yoshihiro Gocho, Satoshi Narumi, Yasuhiro Ebihara, Ichiro Morioka

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	E290-E293
Journal	Journal of Pediatric Hematology/Oncology
Volume	45
Issue number	2
DOIs	https://doi.org/10.1097/MPH.0000000000002578
Publication status	Published - 2023 Mar 1
Externally published	Yes

Keywords

SAMD9/SAMD9L
cord blood transplantation
engraftment syndrome
graft-versus-host disease
monosomy 7

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1097/MPH.0000000000002578

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Hirai, M., Yagasaki, H., Kanezawa, K., Ueno, M., Shimozawa, K., Imai, K., Morio, T., Kato, M., Gocho, Y., Narumi, S., Ebihara, Y., & Morioka, I. (2023). Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation. Journal of Pediatric Hematology/Oncology, 45(2), E290-E293. https://doi.org/10.1097/MPH.0000000000002578

Hirai, M, Yagasaki, H, Kanezawa, K, Ueno, M, Shimozawa, K, Imai, K, Morio, T, Kato, M, Gocho, Y, Narumi, S, Ebihara, Y & Morioka, I 2023, 'Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation', Journal of Pediatric Hematology/Oncology, vol. 45, no. 2, pp. E290-E293. https://doi.org/10.1097/MPH.0000000000002578

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title = "Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation",

abstract = "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.",

keywords = "SAMD9/SAMD9L, cord blood transplantation, engraftment syndrome, graft-versus-host disease, monosomy 7",

author = "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",

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doi = "10.1097/MPH.0000000000002578",

language = "English",

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T2 - SAMD9 / SAMD9L Germline Mutation

AU - Hirai, Maiko

AU - Yagasaki, Hiroshi

AU - Kanezawa, Koji

AU - Ueno, Masaru

AU - Shimozawa, Katsuyoshi

AU - Imai, Kohsuke

AU - Morio, Tomohiro

AU - Kato, Motohiro

AU - Gocho, Yoshihiro

AU - Narumi, Satoshi

AU - Ebihara, Yasuhiro

AU - Morioka, Ichiro

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AB - 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.

KW - SAMD9/SAMD9L

KW - cord blood transplantation

KW - engraftment syndrome

KW - graft-versus-host disease

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Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation

Abstract

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