39例伴t（9;11）（p22;q23）急性髓系白血病的临床和实验研究

The Laboratory and Clinical Studies of MLL Rearrangements in 39 Acute Myeloid Leukemia Patients with t（9;11）（p22;q23）

目的 分析伴有t（9;11）（p22;q23）异常急性髓系白血病（AML）的临床及实验室特征,并判断该类异常核型预后意义.方法 应用骨髓细胞短期培养法,经R显带制备染色体并进行核型分析;应用荧光原位杂交（FISH）技术检测MLL基因重排;逆转录多重聚合酶链反应（multiplex RT-PCR）检测MLL-AF9融合基因;流式细胞术（flow cytometry,FCM）进行免疫表型分析.结果 39例AML患者伴有t（9;11）（p22;q23）异常核型,包括M526例,M02例,CML-CP 1例,CML-BC 4例,另有5例AML及1例脾大患者未能确诊.39例患者经FISH证实均为MLL重排阳性.26例行多重PCR检测,7例为MLL/AF9融合基因阳性.22例行免疫表型分析,所有患者均有髓系抗原CD33或CD13表达,其中21例同时伴有CD15和CD117表达.具有白细胞计数资料的26例患者中位白细胞计数为27.1x109/L.20例有随访资料患者中,8例存活,12例死亡,中位生存期15个月.结论 AML中,t（9;11）（p22;q23）异常核型多见于M5,预后不良,但好于t（6;11）（q27;q23）异常AML患者.多重PCR联合核型分析和FISH技术是检测该类异常的最佳方法组合.

Objective To analyze the clinical and laboratory characteristics of leukemia with t（9;11）（p22;q23）, and study its prognosis value with the clinical significance. Methods Cytogenetic examination of bone marrow cells was performed by short-term culture method. R-banding technique was used for karyotype analysis. 39 patients were detected by interphase fluorescence in situ hybridization （FISH） with dual-color break apart MLL probe. Meanwhile, the MLL-AF9 and immunophenotypic was investigated by multiplex reverse transcription-polymerase chain reaction （multiplex-RT PCR） and flow cytometry （FCM）. Results t（9;11）（p22;23）/MLL rearrangements were confirmed by karyotyping and FISH respectively in 39 patients, including M526 cases, M02 cases, CML-CP 1 case, CML-BC 4 cases, and 5 cases of AML and 1 case of splenomegaly patients failed to diagnose. Among 26 patients who received multiplex-RT PCR, 7 cases showed MLL/AF9 fusion gene positive. 22 patients showed positive for CD33 or CD13, and 21 patients were associated with CD15 and CD117 expression in addition. The median leukocyte count in this group was 27.1 ＆#215; 109/L. Of the 20 patients with follow-up data, 8 survived and 12 died, with a median survival of 15 months. Conclusion The prognosis of leukemia with t（9;11）（p22;q23） was usually poor, besides it had a higher incidence and recrudescence in M5, but better than t（6;11） （q27;q23） AML patients. Multiplex RT-PCR combined with karyotype and FISH are effective methods to detect MLL/AF9 fusion gene and t（9;11）（p22;q23）/MLL rearrangement respectively.