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Abstract：
Acute myeloid leukemia (AML) with t(9;22) (q34.1; q11.2)/BCR::ABL1, a distinct entity within the group of AML with defining genetic abnormalities, belong to the adverse-risk group of the 2022 ELN classification. However, there is little data on outcome since the era of tyrosine kinase inhibitors. Among 5819 AML cases included in the DATAML registry, 20 patients with de novo BCR::ABL1+AML (0.3%) were identified. Eighteen patients treated with standard induction chemotherapy were analyzed in this study. Imatinib was added to chemotherapy in 16 patients. The female-to-male ratio was 1.25 and median age was 54 years. The t(9;22) translocation was the sole chromosomal abnormality in 12 patients. Main gene mutations detected by NGS were ASXL1, RUNX1 and NPM1. Compared with patients with myeloid blast phase of chronic myeloid leukemia (CML-BP), de novo BCR::ABL1+AML had higher WBC, fewer additional chromosomal abnormalities, lower CD36 or CD7 expression and no ABL1 mutations. Seventeen patients (94.4%) achieved complete remission (CR) or CR with incomplete hematologic recovery. Twelve patients were allografted in first remission. With a median follow-up of 6.3 years, the median OS was not reached and 2-year OS was 77% (95% CI: 50-91). Four out of five patients who were not transplanted did not relapse. Comparison of BCR::ABL1+AML, CML-BP, 2017 ELN intermediate (n = 643) and adverse-risk patients (n = 863) showed that patients with BCR::ABL1+AML had a significant better outcome than intermediate and adverse-risk patients. BCR::ABL1+AML patients treated with imatinib and intensive chemotherapy should not be included in the adverse-risk group of current AML classifications.
摘要：
急性髓性白血病（AML），t（9;22）（q34.1;q11.2）/BCR：：ABL1，AML组中具有定义遗传异常的独特实体，属于2022年ELN分类的不利风险组。然而,自酪氨酸激酶抑制剂时代以来，关于结果的数据很少。在DATAML注册表中的5819起AML案件中，鉴定出20例患者从头BCR::ABL1+AML(0.3%)。在这项研究中分析了18例接受标准诱导化疗的患者。16例患者化疗中加入了伊马替尼。男女比例为1.25，中位年龄为54岁。t（9；22）易位是12例患者中唯一的染色体异常。NGS检测到的主要基因突变为ASXL1、RUNX1和NPM1。与慢性粒细胞白血病（CML-BP）的髓细胞母细胞期患者相比，从头BCR::ABL1+AML有较高的白细胞，减少额外的染色体异常，CD36或CD7表达较低，无ABL1突变。17例患者（94.4％）达到完全缓解（CR）或CR，血液学恢复不完全。12例患者在首次缓解时进行了同种异体移植。中位随访时间为6.3年，未达到中位OS,2年OS为77%(95%CI:50~91).五分之四的未移植患者没有复发。BCR::ABL1+AML的比较，CML-BP,2017年ELN中间（n=643）和不良风险患者（n=863）显示，BCR::ABL1AML患者的预后明显优于中间和不良风险患者。BCR::用伊马替尼和强化化疗治疗的ABL1+AML患者不应包括在当前AML分类的不良风险组中。
