Analysis of WGS data derived from five paired primary and relapsed acute myeloid leukemia patients (#141)
Most patients with acute myeloid leukemia (AML) die from progressive disease after relapse, which is associated with clonal evolution at the cytogenetic level. Somatic mutational spectrum associated with primary and relapse tumor was investigated in five AML patients’ sample to understand how the frequency of the somatic mutations was changed during relapse. Detection of somatic mutation was performed by Varscan2 with whole genome sequencing data. After we gathered the somatic variants commonly found in between primary and relapse, fractions of altered and normal variants in given read depths were respectively estimated for each of the primary and relapse. Then, Fisher’s exact test was performed to ask which variants are significantly changed in the frequencies between primary and relapse. From this analysis, we classified the somatic variants into five different groups i.e., founder, primary enriched, primary enriched2, relapse enriched and relapse enriched2 group. Interestingly, list of relapse-enriched2 variants which was allocated in 20 different genes, i.e., the variants with relatively high frequency in the relapse tumor than in the primary tumor, were identical across all patients. We think that some of these relapse-enriched2 mutations may contribute to understand clonal selection process during the AML relapse.