Background: Acute myeloid leukemia (AML) represents a heterogeneous group of clonal disorders characterized by uncontrolled proliferation and maturational block of hematopoietic progenitor cells, due to acquired genetic mutations. In recent years, Next Generation Sequencing (NGS) has enabled a more precise interpretation of the genetic mechanisms underlying the pathology. This has led to an update of the European Leukemia Net (ELN) guidelines in 2022, which recommend the use of NGS panels for diagnosis, prognosis, and monitoring of minimal residual disease. Methods: In this study, the contribution of the Genexus NGS technology in molecular diagnosis and prognostic evaluation of 653 patients with suspected AML recruited between September 2023 and January 2025 has been evaluated. Results: NGS analysis allowed stratification of patients according to ELN 2022 risk classes: 50.3% had an unfavorable prognosis, 5.9% had a favorable prognosis, 23.4% had an intermediate prognosis, while 20.4% of patients could not be classified due to the absence of mutations and rearrangements or the presence of variants of uncertain significance. Furthermore, fusion analysis detected their presence in 71 patients: 32% of these had the KMT2A gene rearranged and 23% had the t(9; 22) translocation. Based on these results, targeted therapy was possible for approximately half of the patients. Conclusions: The study shows that the Genexus NGS approach represents an important technological innovation due to its efficiency and rapidity, to be used in the diagnostic framework, increasingly precise and comprehensive of patients with AML.
Genexus: un nuovo approccio all-in-one di next generation sequencing nella diagnosi molecolare di leucemia mieloide acuta
IZZO, Viviana;
2025
Abstract
Background: Acute myeloid leukemia (AML) represents a heterogeneous group of clonal disorders characterized by uncontrolled proliferation and maturational block of hematopoietic progenitor cells, due to acquired genetic mutations. In recent years, Next Generation Sequencing (NGS) has enabled a more precise interpretation of the genetic mechanisms underlying the pathology. This has led to an update of the European Leukemia Net (ELN) guidelines in 2022, which recommend the use of NGS panels for diagnosis, prognosis, and monitoring of minimal residual disease. Methods: In this study, the contribution of the Genexus NGS technology in molecular diagnosis and prognostic evaluation of 653 patients with suspected AML recruited between September 2023 and January 2025 has been evaluated. Results: NGS analysis allowed stratification of patients according to ELN 2022 risk classes: 50.3% had an unfavorable prognosis, 5.9% had a favorable prognosis, 23.4% had an intermediate prognosis, while 20.4% of patients could not be classified due to the absence of mutations and rearrangements or the presence of variants of uncertain significance. Furthermore, fusion analysis detected their presence in 71 patients: 32% of these had the KMT2A gene rearranged and 23% had the t(9; 22) translocation. Based on these results, targeted therapy was possible for approximately half of the patients. Conclusions: The study shows that the Genexus NGS approach represents an important technological innovation due to its efficiency and rapidity, to be used in the diagnostic framework, increasingly precise and comprehensive of patients with AML.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
