Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation
Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation
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DOI：
10.1532/ijh97.04044
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发表时间：
2005-01-01
影响因子：
2.1
通讯作者：
Fujimura, K
中科院分区：
文献类型：
--
作者：
Fujimoto, TT;Kishimoto, M;Fujimura, K
我们报告骨髓移植（BMT）成功治疗急性髓性白血病（A-NIL）患者Glanzmann血栓减少症（GT）。遗传分析显示，GPIIb基因外显子3的一个新的点突变导致剪接异常，导致氨基酸替换和框内3个氨基酸残基缺失。由于患者有严重的出血表现，急性髓性白血病的诱导治疗采用频繁的血小板输注。在第二次缓解中。患者成功地接受了来自hla匹配的非亲属供体的BMT治疗。血小板功能恢复正常。GT表型完全消失。我们的经验表明，BMT是治疗GT的一种治疗策略。我们认为这项研究首次证明了骨髓移植治疗AML后的移植可以通过监测GT的先天性遗传缺陷来确定。(C) 2005，日本血液学会。
We report successful treatment by bone marrow transplantation (BMT) in an acute myeloid leukemia (A-NIL) patient with Glanzmann thrombasthenia (GT). Genetic analysis revealed that a novel point mutation in exon 3 of the GPIIb gene led to abnormal splicing resulting in an amino acid substitution and an in-frame deletion of 3 amino acid residue Expression studies suggested a rapid degradation of the uncomplexed protein within the cells. Induction therapy for AML was performed with frequent platelet transfusions because of the patient's severe hemorrhagic manifestations. In the second remission. the patient was successfully treated by BMT from an HLA-matched unrelated donor. Platelet function returned to normal. and the GT phenotype completely disappeared. Our experience suggests that BMT is a curative therapeutic strategy for GT. Furthermore. we believe this study is the first to demonstrate that engraftment after BMT for AML can be determined by monitoring the congenital g genetic defect of GT. (C) 2005 The Japanese Society of Hematology.