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.
伴t(9;22)(q34.1;q11.2)/BCR::ABL1的急性髓系白血病（AML）是具有明确遗传学异常AML组中的独特类型，在2022年ELN分类中属于不良风险组。然而，自酪氨酸激酶抑制剂时代以来，其预后数据十分有限。在DATAML登记库纳入的5819例AML病例中，鉴定出20例（0.3%）原发BCR::ABL1阳性AML患者。本研究分析了其中接受标准诱导化疗的18例患者，其中16例在化疗基础上加用伊马替尼。患者男女比例为1.25，中位年龄54岁。12例患者中t(9;22)易位为唯一染色体异常。二代测序检测到的主要基因突变包括ASXL1、RUNX1和NPM1。与慢性髓系白血病髓系急变期（CML-BP）患者相比，原发BCR::ABL1阳性AML患者具有更高的白细胞计数、更少的附加染色体异常、更低的CD36或CD7表达，且未发现ABL1突变。17例患者（94.4%）达到完全缓解（CR）或伴不完全血液学恢复的完全缓解。12例患者在首次缓解期接受了异基因移植。中位随访6.3年，中位总生存期未达到，2年总生存率为77%（95% CI：50–91）。5例未移植患者中有4例未复发。通过比较BCR::ABL1阳性AML、CML-BP、2017年ELN中危组（643例）与高危组患者（863例），发现BCR::ABL1阳性AML患者的预后显著优于中危和高危组患者。接受伊马替尼联合强化化疗的BCR::ABL1阳性AML患者不应被纳入当前AML分类的不良风险组。
肿瘤(癌症)患者之家