Transforming Acute Myeloid Leukemia Treatment Through Next-Generation Sequencing: A Single-Center Experience

In the last decade, advancements in understanding the genetic and molecular mechanisms of acute myeloid leukemia (AML) have significantly improved treatment options. Techniques such as immunophenotyping, cytogenetics, and next-generation sequence (NGS) testing are now standard practices for patient assessments, allowing for personalized therapies based on individual patient needs. Our study aimed to evaluate the impact of cytogenetics and NGS on initial treatment decisions for AML at our institution. We analyzed the frequency of alternative therapy choices that could have been made with complete molecular and cytogenetic information and compared overall survival rates between patient groups. We also analyzed the turnaround time for result generation. Our retrospective study evaluated 39 AML patients treated at our university hospital from June 2020 to June 2022, excluding classic acute promyelocytic leukemia cases. Patients with incomplete data or concurrent hematological malignancies were excluded. We collected data on admission blood counts, European LeukemiaNet (ELN) risk stratification, Charlson score, treatment type, and timing of cytogenetics and NGS results. Patients were categorized into 'standard' or 'other therapy' groups based on their molecular and cytogenetic profiles in accordance with NCCN guidelines. Our main goal was to determine how often NGS and cytogenetics results could have influenced induction therapy choices. Secondary objectives included comparing overall survival rates and analyzing report turnaround times for NGS and cytogenetics. Our study found that out of the 39 AML patients, 17 were in the "standard" group, and 22 were in the "other therapy" group. The standard group had an average age of 62.59 years, an average time to chemotherapy initiation of 8.29 days, and an overall survival (OS) rate of 428.12 days. The other therapy group had an average age of 61.86 years, an average time to chemotherapy initiation of six days, and an OS rate of 258.64 days. There was a significant difference in survival rates between the two groups (p=0.009). According to the ELN stratification, the standard group had 11 patients at intermediate risk and six at adverse risk. In contrast, the other therapy group had seven at intermediate risk, four at good risk, and 11 at adverse risk. NGS revealed mutations in 58.97% of patients. Our study suggests that almost half of the patients could have been treated differently if complete molecular and cytogenetic information had been available before therapy initiation, highlighting the potential for more personalized treatments. Additionally, our results showed significant differences in overall survival rates between standard treatment and alternative therapy groups. Our findings emphasize the importance of timely NGS and cytogenetics result generation, guiding institutions to allocate resources for effective patient care.