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FLT3基因突变与急性早幼粒细胞白血病髓外复发
FLT3 Mutation in Acute Promyelocytic Leukemia Patients with Extramedullary Relapse
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摘要: 目的 探讨 FLT3基因突变在急性早幼粒细胞白血病（acute promyelocyticleukemia，APL）髓外复发中的意义。 方法 回顾性检测2例典型APL髓外复发患者骨髓及血液标本可能存在的基因突变，分析FLT3突变与APL髓外复发的相关性。结果 1例APL中枢神经系统复发的患者发生较罕见的FLT3-酪氨酸激酶结构域（TKD）点突变Asn841Gly（A841G）及一种新的WT1基因突变 (c.1209_1210insT/p.K404X)；1例APL睾丸复发的患者发生较罕见的FLT3-TKD点突变Asp839Gly (D839G)和一种新的WT1基因突变Arg458Pro (c.1373G>C)。 结论 本研究病例中发现的罕见FLT3突变与新的WT1基因突变可能与APL髓外复发相关，为后续相关研究提供了基础。临床中需重视APL患者基因突变检测，以便更好分层治疗，改善预后。Abstract: Objective To evaluate the role of FLT3 gene mutation in acute promyelocytic leukemia (APL) patients with extramedullary relapse. Methods The blood and bone marrow samples were collected from 2 APL patients with extramedullary relapse and FLT3 gene mutation was detected with these samples. The correlation between FLT3 gene mutation and extramedullary relapse was analyzed. Results A rare point mutation Asn841Gly (A841G) of FLT3-TKD and a novel mutation (c.1209_1210insT/p.K404X) of WT1 were detected in a APL patient who suffered CNS relapse, while a rare point mutation Asp839Gly (D839G) of FLT3-TKD and a novel mutation Arg458Pro (c.1373G>C) of WT1 were found in another APL patient who suffered testicular relapse. Conclusion The rare point mutation of FLT3 as well as the novel mutation of WT1 were found in APL with extramedullary relapse.
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