Analysis of Genetics Characteristics in Acute Myeloid Leukemia with t(8;21)
LI Yuehua1, NIE Yanbo2, ZHANG Hong2, LI Hongyu2, ZHANG Jiayi2, WANG Cui2, CHEN Zhi2, YANG Shaobin2, LIN Yani2, RU Kun2, WANG Jianxiang1*
The purpose of this study was to analyze other genetic abnormalities in AML (acute myeloid leukemia) patients with t(8;21). It retrospectively studied the clinical features of 207 AML patients with t(8;21) retrieved from Sino-US diagnostics lab from June 2015 to October 2021. The karyotype and gene mutation were also be systematically analyzed. The studies showed that (1) among these 207 AML patients with t(8;21), 62.8% was detected other abnormal chromosomes, which mainly included sex chromosome deletion (48.3%) and 9q– (5.3%), etc. 12% had complex karyotype (CK). (2) 56 genes were screened in the patients with AML with t(8;21), the results illustrated that 95% of the patients carried 50 gene mutations. The incidence of KIT gene mutation was 53% (the highest), followed by NRAS (18%), ASXL2 (17%), FLT3 (12%), and EZH2 (10%). Most mutations were enriched in signal transduction, chromatin modification, and transcriptional regulation pathways. (3) according to the further analysis of genetic characteristics of the AML patients with with t(8;21), this study found that IDH1/2 and CK might co-occurrence, IDH1/2 and ZBTB7A mutations, ASXL2 and CCND2 mutations might co-occurrence. On the contrary, KIT and NRAS mutation were mutually exclusive. The results showed that AML patients with t(8;21) often carry other chromosome abnormalities and gene mutations. The different genes and chromosome abnormalities can be coexisted or be mutually exclusive.
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