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Real-world genomic profiling of acute myeloid leukemia and the impact of European LeukemiaNet risk stratification 2022 update

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Abstract

Background

Acute myeloid leukemia (AML) is a myeloid neoplasm associated with a high morbidity and mortality. The diagnosis, risk stratification and therapy selection in AML have changed substantially in the last decade with the progressive incorporation of clinically relevant molecular markers.

Methods

In this work, our aim was to describe a real-world genomic profiling experience in AML and to demonstrate the impact of the European Leukemia Net 2022 update on risk stratification in AML.

Results and Discussion

One hundred and forty-one patients were evaluated with an amplicon-based multi-gene next-generation sequencing (NGS) panel. The most commonly mutated genes were FLT3, DNMT3A, RUNX1, IDH2, NPM1, ASXL1, SRSF2, NRAS, TP53 and TET2. Detection of FLT3 ITD with NGS had a sensitivity of 96.3% when compared to capillary electrophoresis. According to ELN 2017, 26.6%, 20.1%, and 53.3% of patients were classified as having a good, moderate, or unfavorable risk. When ELN 2022 was used, 15.6%, 27.8%, and 56.6% of patients were classified as favorable, moderate, or unfavorable risk, respectively. When ELN 2022 was compared to ELN 2017, thirteen patients (14.4%) exhibited a different risk classification, with a significant decrease in the number of favorable risk patients, what has immediate clinical impact.

Conclusions

In conclusion, we have described a real-world genomic profiling experience in AML and the impact of the 2022 ELN update on risk stratification.

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Data Availability

The data from this study will not be made publicly available.

Ethical approval (Research involving human participants and/or animals) and Informed consent

This study was approved by the Institutional Review Board of Hospital Israelita Albert Einstein (protocol 1699-13). All the data were deidentified for the preparation of this manuscript. Informed consent was waived for the protocol 1699-13.

Conflict of interest

Campregher PV has received fee as speaker from Illumina.

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Authors and Affiliations

  1. Hospital Israelita Albert Einstein, São Paulo, Brazil

    Susana Elaine Alves da Rosa, Larissa Barbosa de Lima, Caroline Nunes Silveira, Luiz Gustavo Ferreira Cortes, João Bosco de Oliveira Filho, Rodrigo de Souza Reis, Murilo Castro Cervato, Pedro Henrique Sebe Rodrigues, Karla de Oliveira Pelegrino, Roberta Cardoso Petroni, Erica da Silva Araujo & Paulo Vidal Campregher

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  1. Susana Elaine Alves da Rosa
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  2. Larissa Barbosa de Lima
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  3. Caroline Nunes Silveira
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  4. Luiz Gustavo Ferreira Cortes
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  5. João Bosco de Oliveira Filho
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  12. Paulo Vidal Campregher
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Correspondence to Paulo Vidal Campregher.

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da Rosa, S.E.A., de Lima, L.B., Silveira, C.N. et al. Real-world genomic profiling of acute myeloid leukemia and the impact of European LeukemiaNet risk stratification 2022 update. Clin Transl Oncol 25, 3431–3436 (2023). https://doi.org/10.1007/s12094-023-03195-5

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  • DOI: https://doi.org/10.1007/s12094-023-03195-5

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