Companion gene mutations and their clinical significance in AML with double mutantCEBPA

Acute myeloid leukemia (AML) with double mutantCEBPA(CEBPAdm) is generally associated with favorable prognosis, but the heterogeneity still blatant and needs further exploration. We aimed to comprehensively analyze the companion genetic abnormalities and their clinical significance in AML patients withCEBPAdm. By performed targeted amplicon sequencing of 58 genes in specimens at the time of initial diagnosis of 609 AML patients, we identified 76 cases (12.5%) wereCEBPAdm, and 88.2% of them also carry other gene mutations. There were more additional gene mutations, especially more epigenetic modifiers gene mutations inCEBPAsmthanCEBPAdmcases, whileGATA2,CSF3R,JAK3, andKITmutations were exclusively betide inCEBPAdmbut notCEBPAsm. Mutations of tyrosine kinase genes confer to adverse prognostic in karyotype normalCEBPAdmAML and provide potential therapeutic targets. The incidence of germlineCEBPAmutation inCEBPAdmcases was 5.3% (4/76), including one C-terminal mutation. Deciphering the mutation spectrum ofCEBPAdmAML could facilitate an in-depth understanding of the pathogenesis and refine the prognostic classification of this disease entity.