Shabanova Iren, Cada Michaela, Johnston Donna L, Abbott Lesleigh S, Leung Elaine W, Schechter Tal, Dror Yigal, Klaassen Robert J
Genetics and Genome Biology Program.
Marrow Failure and Myelodysplasia Program, Department of Pediatrics, Division of Hematology/Oncology.
J Pediatr Hematol Oncol. 2020 Apr;42(3):170-174. doi: 10.1097/MPH.0000000000001763.
The distinction between myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) often relies on an arbitrary marrow blast cutoff of 30% in pediatrics and 20% in adults. There is little data about the treatment of children with extramedullary myeloid malignancy that has features of both, MDS and AML. Herein, we report for the first time 2 patients MDS/AML (1 with Shwachman-Diamond syndrome and 1 with idiopathic MDS and monosomy 7) who presented with extramedullary complications, received treatment with azacitidine, achieved complete remission and subsequently underwent hematopoietic stem cell transplantation.
骨髓增生异常综合征（MDS）与急性髓系白血病（AML）的区分通常依赖于儿科中30%和成人中20%这一任意设定的骨髓原始细胞临界值。关于患有兼具MDS和AML特征的髓外髓系恶性肿瘤儿童的治疗数据很少。在此，我们首次报告2例MDS/AML患者（1例患有施瓦赫曼-戴蒙德综合征，1例患有特发性MDS和7号染色体单体），他们出现了髓外并发症，接受了阿扎胞苷治疗，实现了完全缓解，随后接受了造血干细胞移植。
