Acute myeloid leukemia (AML) identifies a heterogeneous group of clonal disorders, both clinically and genetically. A large number of mutations have been described in AML, although only a few are currently employed in clinical practice. Next generation sequencing (NGS) allows for better understanding of the complex genetic background in AML and may direct individualized therapies. In this study, we aim to identify molecular aberrations that are not routinely investigated in AML using an NGS-based panel encompassing 101 genes and to evaluate how their oncogenic potential correlates with survival. Forty consecutive patients with newly diagnosed AML were enrolled between January 2018 and April 2020. We performed targeted NGS and detected 96 mutations in 36 patients (90%), while 14 fusion genes were detected in 13 patients (32%). Each mutation was weighed using OncoScore, a text-mining tool ranking genes according to their oncogenic potential. An OncoScore >= 100 was associated with shorter PFS among our patients (p = 0.05). In 11 patients with no available MRD markers at diagnosis, we were able to perform NGS-based MRD monitoring using targeted deep sequencing. Overall, our study shows that NGS is a powerful tool in AML and should be employed both in routine diagnostic workup and follow up.

Steidl, C., Aroldi, A., Mologni, L., Crespiatico, I., Fontana, D., Mastini, C., et al. (2022). Validation of a new NGS-based myeloid panel in acute myeloid leukemia: A single-center experience. LEUKEMIA RESEARCH, 118(July 2022) [10.1016/j.leukres.2022.106861].

Validation of a new NGS-based myeloid panel in acute myeloid leukemia: A single-center experience

Steidl, Carolina
Primo
;
Aroldi, Andrea;Mologni, Luca;Crespiatico, Ilaria;Fontana, Diletta;Mastini, Cristina;Borin, Lorenza;Piazza, Rocco;Gambacorti-Passerini, Carlo
Ultimo
2022

Abstract

Acute myeloid leukemia (AML) identifies a heterogeneous group of clonal disorders, both clinically and genetically. A large number of mutations have been described in AML, although only a few are currently employed in clinical practice. Next generation sequencing (NGS) allows for better understanding of the complex genetic background in AML and may direct individualized therapies. In this study, we aim to identify molecular aberrations that are not routinely investigated in AML using an NGS-based panel encompassing 101 genes and to evaluate how their oncogenic potential correlates with survival. Forty consecutive patients with newly diagnosed AML were enrolled between January 2018 and April 2020. We performed targeted NGS and detected 96 mutations in 36 patients (90%), while 14 fusion genes were detected in 13 patients (32%). Each mutation was weighed using OncoScore, a text-mining tool ranking genes according to their oncogenic potential. An OncoScore >= 100 was associated with shorter PFS among our patients (p = 0.05). In 11 patients with no available MRD markers at diagnosis, we were able to perform NGS-based MRD monitoring using targeted deep sequencing. Overall, our study shows that NGS is a powerful tool in AML and should be employed both in routine diagnostic workup and follow up.
Articolo in rivista - Articolo scientifico
Acute myeloid leukemia; Minimal residual disease; Mutation; Next generation sequencing;
English
19-mag-2022
2022
118
July 2022
106861
none
Steidl, C., Aroldi, A., Mologni, L., Crespiatico, I., Fontana, D., Mastini, C., et al. (2022). Validation of a new NGS-based myeloid panel in acute myeloid leukemia: A single-center experience. LEUKEMIA RESEARCH, 118(July 2022) [10.1016/j.leukres.2022.106861].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/407359
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