中文摘要：

目的探讨DNA同源重组修复基因RAD51-G135C和XRCC3-C241T多态性与inv（16）／t（16；16）／CBFβ-MYH11阳性急性髓系白血病（AML）患者预后之间的关系。方法对染色体核型可供分析且随访资料完整的103例初治原发性inv（16）／t（16；16）／CBFβ-MYH11阳性AML患者进行回顾性分析。用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）方法检测患者RAD51-G135C、XRCC3-C241T基因多态性。采用单因素（包括性别、初诊时年龄、白细胞计数、血小板计数、血红蛋白含量、染色体核型、KIT基因突变、RAD51-G135C和XRCC3-C241T基因多态性）和多因素分析方法评估患者完全缓解（CR）率、总体生存（OS）率和无复发生存（RFS）率的影响因素。结果全部患者中位随访时间为28（1～106）个月，总体CR率为92．2％，预期5年OS率和RFS率分别为43．6％（95％C137．7％-49．5％）和26．4％（95％CI21．1％-31．7％），预期中位OS时间和RFS时间分别为53．0（95％CI33．4～72．7）个月和27（95％CI22．9～31．1）个月。多因素分析结果显示：高白细胞计数（P=0．004）和年龄〉30岁（P=0．035）是与CR率有关的独立不良预后因素，XRCC3-C241T变异基因型（P=0．007）和高白细胞计数（P=0．009）是与RFS率有关的独立不良预后因素，高白细胞计数（P=0．002）和伴有＋8染色体核型异常（P=0．035）是与OS率有关的独立不良预后因素；而RAD51-G135C基因型对此类白血病的预后无明显影响。结论XRCC3-C241T变异基因型是inv（16）／t（16；16）／CBFβ-MYH11阳性AML一个独立的不良预后因素。

英文摘要：

Objective To investigate the impact of polymorphisms of DNA homologous recombination （HR） repair genes RAD51-G135C and XRCC3-C241T on the prognosis of acute myeloid leukemia （AML） with inv（16）/t（16;16）（CBFβ-MYH11）. Methods One hundred and three de novo inv（16）/t（16;16） （CBFβ-MYH11） AML patients were followed-up and retrospectively analyzed. Polymorphisms of RAD51- G135C and XRCC3-C241T were detected by PCR-RFLP. The prognostic factors,including sex, age, white blood cell count, platelet count, hemoglobin level, karyotype, KIT mutation, RAD51-G135C and XRCC3- C241T polymorphisms at diagnosis, for complete remission （CR） achievement, overall survival （OS） and relapse-flee survival （RFS） were analyzed by univariate and multivariate analyses. Results The median fol- low-up of all patients was 28 （1 -106）months. The overall CR rate was 92.2%. The estimated 5-year OS and RFS rates were 43. 6% （95%C137.7% -49.5%） and 26.4% （95%C121.1% -31.7%）, and the median OS and RFS were 53 （ 95 % C133.4 - 72.7 ） and 27 （ 95 % CI 22.9 - 31.1 ） months, respectively. In multivariate analysis, higher WBC （ P = 0. 004） and older than 30 years of age （ P = 0,035 ） were independent poor factors for CR achievement, the XRCC3-241T variant （ P = 0. 007 ） and higher WBC （ P = 0. 009）were independent poor factors for 5-year RFS, and higher WBC （ P = 0. 002 ） and trisomy 8 （ P = 0. 035 ） were independent poor factors for 5-year survival. Polymorphism of tlAD51-（;135C had no significant impacl on the prognosis. Conclusion The XtlCC3-241T variant is an independent poor prognostic factor for AMI, with inv （ 16 ）/t （ 16 ; 16 ）/CBFI3-MYHI 1.