PML-RARα融合基因不同亚型急性早幼粒细胞白血病的临床特征

Clinical features of different isoforms of PML-RARα fusion gene in patients with acute promyelocytic leukemia

目的探讨PML-RARα不同亚型的急性早幼粒细胞白血病(APL)患者的临床特征及预后。方法收集福建医科大学附属协和医院2013年2月至2016年7月收治的78例初诊APL患者的临床资料,分析PML-RARα不同亚型患者的临床特征及预后。结果78例患者中,女性32例,男性46例,中位年龄40岁(13~68岁)。最常见的PML-RARα融合基因为L型(48.7%,38/78),其次为S型(46.2%,36/78)和V型(5.1%,4/78)。S型患者中白细胞计数>10×10^9/L(高危)者最多见(61.1%,22/36),与V型、L型比较,差异有统计学意义(χ^2=7.683,P<0.05)。78例中,合并CD34阳性8例(10.2%),合并FLT3-内部串联重复(ITD)突变17例(21.8%),合并DNMT3A突变12例(15.4%),附加染色体异常9例(11.5%);3种不同亚型间CD34阳性、FLT3-ITD、DNMT3A以及附加染色体异常发生率差异无统计学意义(P>0.05)。S型患者治疗期间发生维甲酸综合征(RAS)最多见(21/36),L型及V型较少发生(χ^2=7.633,P<0.05)。PML-RARα不同亚型患者间完全缓解率以及无病生存率差异均无统计学意义(P>0.05)。结论PML-RARα不同亚型APL患者临床特点不尽相同,L型最常见,V型、S型中高危者多见,S型治疗期间合并RAS多见,不同亚型对完全缓解率及无病生存率无影响。

Objective To explore the clinical features and prognosis of different PML-RARα fusion gene isoforms in acute promyelocytic leukemia (APL).Methods The clinical data of 78 patients initially diagnosed with APL in Fujian Medical University Union Hospital from February 2013 to July 2016 were collected.The clinical features and prognosis of different PML-RARα fusion gene isoforms were analyzed.Results There were 32 females (41%) and 46 males (59%) in 78 patients,with a median age of 40 years old (13-68 years old).The most common PML-RARα fusion gene was L type (48.7%,38/78),followed by S type (46.2%,36/78) and V type (5.1%,4/78).The patients with white blood cell count more than 10×10^9/L (high-risk) occurred mostly in S type (61.1%,22/36),compared with V type and L type,and there were statistically different (χ^2 =7.683,P < 0.05).A total of 78 patients included 8 cases (10.2%) of combined CD34 positive,17 cases (21.8%) of combined FLT3-ITD mutation,12 cases (15.4%) of combined DNMT3A mutation and 9 cases (11.5%) of additional chromosomal abnormalities.There were no significant differences in CD34 positive,FLT3-ITD,DNMT3A,and the incidence of additional chromosomal abnormalities among the three different isoforms (P > 0.05).The most common occurrence of retinoic acid syndrome (RAS) during treatment was S type (21/36),while rare for L type and V type (χ^2 =7.633,P < 0.05).There were no statistical differences in the complete remission (CR) rate and disease-free survival rate among the patients with different PML-RARα isoforms (P > 0.05).Conclusions The clinical characteristics of different PML-RARα fusion gene isoforms are different,including most-common L type,more-common V type and S type in high risk groups;complicated RAS is commonly found in S type during the treatment.And different isoforms have no effect on the CR and DFS rate.