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. 2024 Oct 15;130(20):3436-3451.
doi: 10.1002/cncr.35431. Epub 2024 Jun 19.

Evolving patterns and clinical outcome of genetic studies performed at diagnosis in acute myeloid leukemia patients: Real life data from the PETHEMA Registry

Jorge Labrador  1 , David Martínez-Cuadrón  2 , Blanca Boluda  2 , Josefina Serrano  3 , Cristina Gil  4 , José A Pérez-Simón  5 , Teresa Bernal  6 , Juan M Bergua  7 , Joaquín Martínez-López  8 , Carlos Rodríguez-Medina  9 , María B Vidriales  10 , Raimundo García-Boyero  11 , Lorenzo Algarra  12 , Marta Polo  13 , María J Sayas  14 , Mar Tormo  15 , Juan M Alonso-Domínguez  16 , Pilar Herrera  17 , Esperanza Lavilla  18 , Fernando Ramos  19 , María L Amigo  20 , Susana Vives-Polo  21 , Gabriela Rodríguez-Macías  22 , Armando Mena-Durán  23 , Manuel M Pérez-Encinas  24 , Olga Arce-Fernández  25 , Rebeca Cuello  26 , Joaquín Sánchez-García  3 , María T Gómez-Casares  9 , María C Chillón  10 , María J Calasanz  27 , Rosa Ayala  8 , Rebeca Rodriguez-Veiga  2 , Eva Barragán  2 , Pau Montesinos  2 ; PETHEMA Group
Affiliations

Evolving patterns and clinical outcome of genetic studies performed at diagnosis in acute myeloid leukemia patients: Real life data from the PETHEMA Registry

Jorge Labrador et al. Cancer. .

Abstract

Background: There are no studies assessing the evolution and patterns of genetic studies performed at diagnosis in acute myeloid leukemia (AML) patients. Such studies could help to identify potential gaps in our present diagnostic practices, especially in the context of increasingly complex procedures and classifications.

Methods: The REALMOL study (NCT05541224) evaluated the evolution, patterns, and clinical impact of performing main genetic and molecular studies performed at diagnosis in 7285 adult AML patients included in the PETHEMA AML registry (NCT02607059) between 2000 and 2021.

Results: Screening rates increased for all tests across different time periods (2000-2007, 2008-2016, and 2017-2021) and was the most influential factor for NPM1, FLT3-ITD, and next-generation sequencing (NGS) determinations: NPM1 testing increased from 28.9% to 72.8% and 95.2% (p < .001), whereas FLT3-ITD testing increased from 38.1% to 74.1% and 95.9% (p < .0001). NGS testing was not performed between 2000-2007 and only reached 3.5% in 2008-2016, but significantly increased to 72% in 2017-2021 (p < .001). Treatment decision was the most influential factor to perform karyotype (odds ratio [OR], 6.057; 95% confidence interval [CI], 4.702-7.802), and fluorescence in situ hybridation (OR, 2.273; 95% CI, 1.901-2.719) studies. Patients ≥70 years old or with an Eastern Cooperative Oncology Group ≥2 were less likely to undergo these diagnostic procedures. Performing genetic studies were associated with a favorable impact on overall survival, especially in patients who received intensive chemotherapy.

Conclusions: This unique study provides relevant information about the evolving landscape of genetic and molecular diagnosis for adult AML patients in real-world setting, highlighting the increased complexity of genetic diagnosis over the past 2 decades.

Keywords: NGS; PETHEMA; REALMOL; acute myeloid leukemia; cytogenetic; diagnostic; genetic.

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References

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