摘要目的 探讨伴t(6;9)(p23;q34)急性髓细胞白血病(acute myeloid leukemia,AML)患者的临床和生物学特点.方法 抽取骨髓细胞按常规制备染色体标本,采用R显带技术进行核型分析;采用标准流式细胞仪和一组单抗检测白血病细胞的抗原表达;应用6号与9号全染色体涂染探针进行染色体荧光原位杂交(fluorescence in situ hybridization,FISH)分析;应用逆转录-PCR技术进行DEK/CAN融合基因和FLT3-ITD突变的检测.结果 t(6;9)易位主要见于M2和M4(M2 4例,M4 2例).所有病例的原始细胞均高表达CD13、CD33,其中4例同时表达HLA-DR、3例同时表达CD34和CD117,1例同时表达CD38,1例同时表达CD15.涂染证实6例患者均涉及6和9号染色体的易位,逆转录-PCR检测显示6例患者的DEK/CAN融合基因均为阳性,其中3例同时存在FLT-ITD突变,6例中的3例经治疗后死亡,生存期分别为3、5和6个月,其余病例仍在缓解中.结论 t(6;9)(p23;q34)为AML少见的再现性异常,伴有t(6;9)(p23;q34)易位的AML具有独特的生物学特征和临床特点,预后大多不良.

abstractsObjective To explore the clinical and laboratory features of 6 cases of acute myeloid leukemia (AML) with t(6;9)(p23;q34). Methods Chromosome preparation of bone marrow cells was performed with regular method. R-banding by heating using Giemsa banding technique (RHG) was used for karyotype analysis. The immunoprofile was studied by flow cytometry (FCM) using a panel of monoclonal antibodies. Chromosome painting was performed by using whole chromosome paint probes for chromosomes 6 and 9 in all the 6 cases. The expression of fusion gene DEK/CAN and FLT3-ITD mutation were analyzed by reverse transcription-PCR (RT-PCR). Results The t (6; 9) (p23; q34) was found in all the 6 cases including 4 cases of M2 and 2 cases of M4. Blast cells were positive for CD13 and CD33 in 6 patients, forHLA-DR in 4 patients, for CD34 and CD117 in 3 cases, for CD38 or CD15 each in 1 case, respectively. A reciprocal translocation between chromosome 6 and 9 was confirmed by chromosome painting technique in the 6 cases. The DEK/CAN fusion gene was found in all the 6 cases, FLT3-ITD mutation was detected in three of them. Follow-up showed that 3 patients died with a survival time of 3 months, 5 months and 6 months, respectively. The other three obtained complete remission and are still alive. Conclusion The t(6; 9)(p23;q34) is a rare recurrent abnormity. AML with t(6;9)(p23;q34) has unique clinical and laboratory features and its prognosis is poor in most cases.