EVI1与BCR/ABL基因共表达的儿童白血病临床分析

Clinical characteristics of childhood leukemia with EVI1 gene and BCR/ABL gene co-expression

摘要:

目的 研究EVI1与BCR/ABL基因共表达的儿童白血病的临床特征。方法 收集并比较分析4例EVI1与BCR/ABL基因共表达的儿童白血病以及8例BCR/ABL基因表达阳性而EVI1表达阴性的慢性粒细胞性白血病（CML）的临床资料。结果 4例EVI1与BCR/ABL基因共表达的白血病患儿初诊时2例为CML慢性期，1例为CML加速期，1例为高危急性淋巴细胞性白血病（ALL）。3例EVI1与BCR/ABL基因共表达的CML与8例BCR/ABL基因表达阳性而EVI1表达阴性CML临床特征比较无明显差异。EVI1与BCR/ABL共表达的患儿均高表达CD33、CD38。染色体分析发现4例患儿都存在t（9；22）。截止到随访日期2013年8月，3例EVI1基因表达阳性的CML患儿2例在治疗1个月或3个月后达到血液学缓解；2例BCR/ABL基因和EVI1基因均未转阴，1例EVI1基因转阴而BCR/ABL基因仍未转阴。除ALL第一疗程治疗后未达缓解，放弃治疗失访外，其余3例患儿均存活，无复发，总生存期分别为20、13、14个月。结论 EVI1与BCR/ABL融合基因共表达可存在于儿童CML和ALL中，其临床特征无特异性，其预后还需扩大样本量进一步明确。

Abstract:

Objective To study the clinical characteristics of ecotopic viral integration site-1 (EVI1) and BCR/ABL positive childhood leukemia. Methods Clinical data of four children with EVI1 and BCR/ABL positive leukemia and eight children with BCR/ABL positive but EVI1 negative chronic myeloid leukemia (CML) were retrospectively analyzed. Results In the four children with EVI1 and BCR/ABL positive leukemia, two were initially diagnosed with chronic phase of CML, one with accelerated phase of CML and one with high-risk acute lymphoblastic leukemia (ALL). There were no significant differences in clinical characteristics at diagnosis between the patients with EVI1 and BCR/ABL positive leukemia and BCR/ABL positive but EVI1 negative leukemia. CD33 and CD38 were highly expressed and t(9;22) abnormality was present in all patients with EVI1 and BCR/ABL positive leukemia. Two of the 3 children with EVI1 and BCR/ABL positive CML achieved complete remission one or three months after treatment. Acquired negative status conversion occurred for EVI1 but not BCR/ABL in one CML case. The 3 children with EVI1 and BCR/ABL positive CML survived 20, 13 and 14 months, respectively, without recurrence. The child with EVI1 and BCR/ABL positive ALL failed to achieve complete remission after the first course of treatment and discontinued further treatment. Conclusions Co-expression of EVI1 and BCR/ABL fusion gene can be found in childhood CML and ALL. The relatively rare leukemia has not significant difference respect to clinical characteristics. Prognosis of the disease needs to be determined by clinical studies with a larger sample size.