3q26重排在慢性髓细胞白血病中的临床特征及预后

Clinical characteristics and prognosis of 3q26 rearrangements in chronic myeloid leukemia

目的评估慢性髓细胞白血病(chronicmyeloid leukemia,CML)中3q26重排患者的临床及预后。方法对2010年至2016年确诊为CML的1 075例患者进行回顾性分析,将其分为3q26重排阳性组(n=19)与3q26重排阴性组(n=1 056),比较两组EVI1表达、ABL激酶区突变并分析其生存差异。同时比较3种治疗方式[酪氨酸激酶抑制剂(tyrosine kinase inhibitors,TKIs)、TKIs联合化疗、异基因造血干细胞移植]对3q26重排阳性患者的预后影响。结果 3q26重排患者多处于进展期(χ^2=181.233,P<0.01),进入急变期的中位时间较短(9.5个月)。3q26重排阳性组ABL激酶区突变比例(χ^2=16.758,P<0.01)及EVI1表达量(Z/U=-0.331 9,P<0.01)均明显高于阴性组。经TKIs治疗后,3q26重排阳性组患者中位生存时间较阴性组患者明显缩短(χ^2=313.229,P<0.01);造血干细胞移植组患者较TKIs治疗组预后好(P=0.049)。结论 3q26重排阳性CML患者急变风险高,时间短,预后差,造血干细胞移植可能改善其预后。

Objective To evaluate the clinical characteristics and prognosis of 3 q26 rearrangements in chronic myeloid leukemia(CML) patients. Methods The clinical and laboratory data of 1 075 patients with CML diagnosed from 2010 to 2016 were retrospectively analyzed, and they were divided into 3 q26 rearrangement positive group(n=19) and 3 q26 rearrangement negative group(n=1 056). The expression of EVI1, ABL kinase region mutation and survival time between the two groups were compared. Meanwhile, the prognostic effects of three treatment methods, including tyrosine kinase inhibitors(TKIs), TKIs combined with chemotherapy and allogeneic hematopoietic stem cell transplantation, on the patients with 3 q26 rearrangements were compared. Results Most of the patients with 3 q26 rearrangements were in the advanced phase(χ^2=181.233, P<0.01), and the median time to enter the acute phase was shorter(9.5 months). The mutation ratio of ABL kinase region and expression levels of EVI1 in 3 q26 rearrangement positive group were significantly higher than that in the negative group(χ^2=16.758, P<0.01;Z/U=-0.331 9, P<0.01). After treatment with TKIs, the median survival time of the 3 q26 rearrangement positive group was significantly shorter than that of the negative group(χ^2=313.229, P<0.01). The prognosis of the patients treated with hematopoietic stem cell transplantation was better than that with TKIs(P=0.049). Conclusion The CML patients with 3 q26 rearrangements have a higher risk of sudden change, shorter survival time and poor prognosis. Hematopoietic stem cell transplantation may improve their prognosis.