To define the biological differences in acute myeloid leukaemia (AML) with KMT2A gene involvements and their prognostic impact, we compared 190 de novo AML patients at diagnosis, 95 harbouring KMT2A-rearrangement (KMT2Ar) and 95 KMT2A-PTD by performing cytogenetic and molecular genetic analyses. Both AML subtypes had an unfavourable outcome, particularly in patients > 60 years. Patients with KMT2Ar were younger compared to patients with KMT2A-PTD (mean 52 vs 65 years, p < 0.001) and had a higher rate of additional cytogenetic abnormalities (ACA) (46% vs 25% of cases). In both groups, occurrence of ACA did not influence the overall survival (OS). Regarding molecular genetics, 66% of patients with KMT2Ar and 99% of patients with KMT2A-PTD had additional gene mutations. In multivariate analysis, KRAS mutations and 10p12 rearrangement resulted as adverse prognostic factors in KMT2Ar subgroup. In the KMT2A-PTD group, apart from age, only the occurrence of DNMT3A non-R882 mutations correlated with shorter OS.

为了确定具有KMT2A基因参与的急性髓细胞白血病（AML）的生物学差异及其对预后的影响，我们通过进行细胞遗传学和分子生物学比较190例从头诊断的AML患者，95例具有KMT2A重排（KMT2A r）和95例KMT2A -PTD的患者。遗传分析。两种AML亚型均具有不利的预后，尤其是在> 60岁的患者中。患者KMT2A R的年轻的患者相比，与KMT2A -PTD（平均52 VS 65岁，p <0.001）并具有更高的其他细胞遗传异常率（ACA）（46％比25％的病例）。在两组中，ACA的发生均不影响总生存期（OS）。关于分子遗传学，66％的KMT2A r患者和99％的KMT2A -PTD患者具有其他基因突变。在多变量分析中，KRAS突变和10p12重排是KMT2A r亚组不良预后因素。在KMT2A -PTD组中，除年龄外，仅DNMT3A非R882突变的发生与较短的OS相关。