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Acute promyelocytic leukemia harbouring rare FLT3-TKD and WT1 mutations: A case report

机译:携带罕见FLT3-TKD和WT1突变的急性早幼粒细胞白血病:一例报告

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摘要

The involvement of the central nervous system (CNS) is rare in acute promyelocytic leukemia (APL). The present study reported the case of a 34-year-old male patient with APL that possessed a rare point mutation (p.Asn841Gly, c.2523C>A) in the tyrosine kinase domain of the FMS-like tyrosine kinase 3 (FLT3) gene and a novel Wilm tumor gene mutation (c.1209_1210insT/p.K404X). The patient suffered central nervous system and systemic relapses twice during systemic and intrathecal chemotherapy. At present, the patient is undergoing alternative induction and consolidation therapies, including the administration of FLT3 inhibitor, tetraarsenic tetrasulfide and novel cytotherapy, and is prepared for salvage allogeneic hematopoietic stem cell transplantion (allo-HSCT). The present study indicated that patients with APL that are at a high risk of relapse and unfavorable gene mutations should receive immediate allo-HSCT, whenever possible.
机译:在急性早幼粒细胞白血病(APL)中,很少涉及中枢神经系统(CNS)。本研究报道了一例34岁的APL男性患者,该患者在FMS样酪氨酸激酶3(FLT3)的酪氨酸激酶结构域中具有罕见的点突变(p.Asn841Gly,c.2523C> A)。基因和一个新的Wilm肿瘤基因突变(c.1209_1210insT / p.K404X)。该患者在全身和鞘内化疗期间遭受了两次中枢神经系统和全身复发。目前,该患者正在接受其他诱导和巩固疗法,包括施用FLT3抑制剂,四硫化四砷和新型细胞疗法,并准备进行同种异体造血干细胞移植(allo-HSCT)抢救。本研究表明,APL复发风险高且基因突变不良的患者应尽可能接受立即allo-HSCT治疗。

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