伴t(2;17;15)急性早幼粒细胞白血病一例并文献复习  

Acute promyelocytic leukemia with t(2;17;15): report of one case and review of literature

作　　者：徐婷婷 王卫敏[1] 樊文娟[1] 王晶淼 付国美 姜中兴[1] Xu Tingting;Wang Weimin;Fan Wenjuan;Wang Jingmiao;Fu Guomei;Jiang Zhongxing(Department of Hematology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院血液科,450052

出　　处：《白血病．淋巴瘤》2019年第12期749-752,共4页Journal of Leukemia & Lymphoma

摘　　要：目的探讨伴t(2;17;15)急性早幼粒细胞白血病(APL)患者的实验室检查指标、临床特点及治疗效果。方法对2018年12月郑州大学第一附属医院收治的1例女性APL患者进行G显带常规核型分析,同时采用荧光原位杂交技术(FISH)快速检测PML-RARα融合基因,应用实时荧光定量聚合酶链反应(RT-PCR)检测常见43种融合基因,应用高通量测序(NGS)技术检测突变基因。予口服维甲酸+静脉滴注亚砷酸方案诱导治疗,后予维甲酸+亚砷酸巩固治疗3个疗程。结果患者G显带染色体核型为46,XX,t(2;17;15)(q31;q21;q22)[8]/46,XX[2];FISH结果示PML-RARα融合基因阳性细胞占62.0%,为PML-RARα阳性;RT-PCR结果为PML-RARα阳性;突变基因检测未见异常。经维甲酸+亚砷酸方案诱导治疗39 d后患者达到完全缓解(CR);染色体核型为46XX[20],PML-RARα/ABL为0/100。后行3个疗程巩固治疗,均为CR。结论伴t(2;17;15)(q31;q21;q22)复杂易位的APL十分少见,细胞形态学不典型,但存在PML-RARα融合基因。维甲酸+亚砷酸治疗效果好,远期疗效仍需随访。Objective To explore the clinical and laboratory characteristics and therapeutic effect of acute promyelocytic leukemia(APL)with t(2;17;15).Methods The G-banding technique was used for karyotypic analysis in a female patient with APL who was admitted to the First Affiliated Hospital of Zhengzhou University in December 2018.PML-RARαfusion gene was quickly detected by fluorescence in situ hybridization(FISH).The real-time quantitative polymerase chain reaction(RT-PCR)was used to detection 43 kinds of fusion gene,and the gene mutations were detected by next generation sequencing(NGS).The induction therapy was given with oral retinoic acid+intravenous infusion of arsenic trioxide,followed by 3 courses of retinoic acid+arsenic trioxide consolidation therapy.Results The G-banding karyotypic analysis demonstrated 46,XX,t(2;17;15)(q31;q21;q22)[8]/46,XX[2].FISH results indicated that 62.0%of analyzed cells were positive for the PML-RARαfusion gene.RT-PCR further revealed the positive PML-RARαfusion gene transcript.NGS detection of gene mutations showed no obvious abnormalities.After 39 days of induction therapy with retinoic acid and arsenic trioxide,the patient achieved complete remission(CR).The karyotype was 46XX[20],and PML-RARα/ABL was 0/100.Then,the patient was treated with 3 courses of consolidation therapy,and the results remained in CR.Conclusions APL with complex t(2;17;15)(q31;q21;q22)is rare,and the morphological characteristics are not typical,but it is still associated with the formation of PML-RARαfusion gene.Retinoic acid+arsenic trioxide has a good therapeutic effect,and the long-term efficacy still needs follow-up.

关 键 词：巩固治疗 诱导治疗 实时荧光定量聚合酶链反应 急性早幼粒细胞白血病 亚砷酸 维甲酸 细胞形态学 复杂易位 

分 类 号：R733.71[医药卫生—肿瘤]