原发性血小板增多症转急性髓系白血病分析

目的:提高对原发性血小板增多症(ET)转化为急性髓系白血病(AML)的认识,并探讨JAK2 V617F基因突变与疾病转化的关系。方法:对本院3例ET转AML患者在转变前后进行骨髓形态学、细胞遗传学、JAK2 V617F基因检测及转变后进行免疫学检测,比较转变前、后的特点,以及临床特征、诊治经过。结果:例1患者诊断ET 5年后转化为AML-M2a,患者放弃治疗出院;例2患者诊断ET 6年后转化为AML,化疗1个疗程后骨髓部分缓解,后血小板持续上升达702×10^9/L,呈ET骨髓象,1年后AML复发,再行化疗未缓解;例3患者诊断ET 7年后转化为AML-M6a,患者放弃治疗出院。3例ET转化为AML的形态学异形性较初诊急性白血病更明显,单纯依靠形态学均未能准确分型,结合免疫学检测后才能较准确分型。例1和例2 ET患者转变前、后JAK2 V617F基因均阳性,例3患者ET时期阳性,转AML后阴性。例1患者ET转化AML后,常规染色体核型分析检出复杂染色体核型,而例2和例3患者均显示为正常核型。结论:ET转化的AML形态学异形性较初诊的急性白血病更显著,需结合免疫学检测才能较准确分型;ET转化为AML可能未涉及JAK2 V617F基因突变,可能与异常染色体核型的出现相关;ET转化的AML病情凶险,化疗疗效差。

Analysis of Essential Thrombocythemia to Acute Myeloid Leukemia

Objective:To improve the understanding of the transformation of essential thrombocythemia(ET)into acute myeloid leukemia(AML),and to explore the relationship between JAK2 V617 F gene mutation and disease transformation.Methods:The detection of bone marrow morphology,cytogenetics,JAK2 V617 F gene were performed before and after transformation,as well as the immunological tests after transformation was performed in 3 patients with ET into AML.The characteristics,clinical features,diagnosis and treatment of the patients before and after transformation were compared.Results:Case 1 transformed into AML-M2 a 5 years after diagnosis of ET.The patient abandoned treatment and was discharged from hospital.Case 2 transformed into AML 6 years after diagnosis of ET.After one course of chemotherapy,bone marrow was partially relieved,and platelets continued to rise up to 702×10^9/L,presenting as ET bone marrow image.One year later,AML relapsed and no remission was observed after chemotherapy.Case 3 transformed into AML-M6 a 7 years after diagnosis of ET.The patient abandoned treatment and was discharged from hospital.The morphological heteromorphism of 3 cases of AML transformed from ET was more obvious than that of patients with newly diagnosed acute leukemia.The AML could not be classified accurately based on morphology simply,but could be classified accurately based on immunological detection.JAK2 V617 F gene was positive before and after transformation in case 1 and case 2 of ET,the case 3 showed that JAK2 V617 F gene was positive at ET stage and negative after AML transformation.Complex chromosome karyotypes were detected by routine karyotype analysis after ET transformation into AML in case 1,while normal karyotypes were found in case 2 and case 3.Conclusion:The morphological abnormality of AML transformed from ET is more significant than that of newly diagnosed acute leukemia,and it needs immunological detection to classify it accurately.The transformation of ET into AML may not involve JAK2 V617 F gene mutation,but may be related with the occurrence of abnormal chromosome karyotypes.The condition of AML transformed from ET is dangerous and the effect of chemotherapy is poor.