Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant

被引：0

作者：

Morishita, Yusuke ^{[1
]}

Hamada, Motoharu ^{[2
,3
]}

Uemura, Suguru ^{[4
]}

Kikuchi, Hiroaki ^{[1
]}

Hisakawa, Hiroaki ^{[1
]}

Fujikawa, Tomoko ^{[5
]}

Tamura, Akihiro ^{[5
]}

Okuno, Yusuke ^{[2
]}

Wakamatsu, Manabu ^{[3
]}

Muramatsu, Hideki ^{[3
]}

Takahashi, Yoshiyuki ^{[3
]}

Hasegawa, Daiichiro ^{[4
]}

Kosaka, Yoshiyuki ^{[4
]}

机构：

[1] Kochi Univ, Kochi Med Sch, Dept Pediat, Nankoku, Japan

[2] Nagoya City Univ, Grad Sch Med Sci, Dept Virol, Nagoya, Japan

[3] Nagoya Univ, Grad Sch Med, Dept Pediat, Nagoya, Japan

[4] Hyogo Prefectural Kobe Childrens Hosp, Dept Hematol & Oncol, Kobe, Japan

[5] Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Japan

来源：

PEDIATRIC BLOOD & CANCER | 2024年

关键词：

ADH5; ALDH2; AMeD syndrome; MDS; HEALTH-ORGANIZATION CLASSIFICATION; CHILDREN;

D O I：

10.1002/pbc.31465

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Aplastic anemia, mental retardation, and dwarfism syndrome (AMeDS) is a rare inherited bone marrow failure syndrome. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only possible treatment option for hematological complications in AMeDS; however, there are no reports addressing allo-HSCT for AMeDS. A 6-year-old female diagnosed with AMeDS accompanying myelodysplastic syndrome with increased blast was successfully treated with cord blood transplantation followed by myeloablative conditioning (MAC). A novel ADH5 c.1101-3C>G variant detected in this patient was demonstrated to be a null variant causing several patterns of alternative splicing in ADH5 gene. MAC might be feasible and effective in AMeDS.

引用

页数：6

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