Retrospective investigation of TP53 mutations in AML case samples

Purpose : Acute myeloid leukemia (AML) is an aggressive malignancy from the clonal expansion of neoplastic hematopoietic progenitor cells, occurring after cytotoxic therapy, hematologic disease transformation, or de novo. Genetic anomalies are crucial in diagnosis and prognosis. The prognostic effects of genetic aberrations in AML are being defined with advanced genetic methods. The TP53 gene mutation is classified as a poor risk in the latest European LeukemiaNet (ELN) guidelines. Our study aimed to analyze TP53 mutations in poor-risk cases identified by conventional and molecular cytogenetic analyses but without chromosomal anomalies, and to determine if these cases' risk classifications would change based on the obtained data. Methods: For this purpose, we analyzed the TP53 gene mutations R175H, R273C, R248C, and R282, which are reported to be the most frequently detected in the literature, using Real-time PCR in 50 cases with either t(8;21), t(15;17), inv(16) detected or normal karyotypes. Findings: In our Real-time PCR study on TP53 mutations in AML cases, no mutations were detected in 50 AML-diagnosed cases. Due to the absence of detected mutations, the relationship between these specific gene mutations and AML in our study group could not be statistically evaluated. Conclusion: TP53 mutations are associated with advanced age and complex karyotypes. Our cases have a lower average age and no poor prognostic cytogenetic findings. TP53 mutations are usually detected by NGS, which may explain the absence of mutations in our rt-PCR analysis. The common mutations R175H, R273C, R248C, and R282 did not affect risk classification in cases with good prognostic cytogenetic anomalies. Cytogenetic analyses remain important. More cases and NGS studies are needed for clearer data. Keywords: AML, TP53, ELN, Real-time PCR, Conventional, Molecular Cytogenetics