Rapid molecular screening of adult AML : Experience from the Spanish CETLAM cooperative group

Genetic testing is essential for risk stratification and early therapeutic decision-making in acute myeloid leukaemia (AML). While 2022 European LeukemiaNet (ELN) guidelines recommend a 3-5-day turnaround time for key molecular markers, next-generation sequencing (NGS) often extends to 15 days in clinical practice. In this study, we evaluated the first-year results of a centralized rapid screening platform for 15 hospitals in the Grupo Cooperativo de Estudio y Tratamiento de las Leucemias Agudas y Mielodisplasias (CETLAM) cooperative group, modelled after the German-Austrian Acute Myeloid Leukaemia Study Group (AMLSG) diagnostic strategy. We prospectively enrolled 211 consecutive adult patients with de novo AML. A centralized laboratory performed nucleic acid purification, biobanking and high-priority molecular analysis including nucleophosmin 1 (NPM1), Fms-like tyrosine kinase 3 (FLT3-ITD/TKD), CCAAT enhancer binding protein alpha (CEBPA), isocitrate dehydrogenase 1 and 2 (IDH1/2), lysine methyltransferase 2A (KMT2A-PTD), upstream binding transcription factor (UBTF-TD) and 10 key fusions using polymerase chain reaction (PCR) and capillary electrophoresis. Results were compared with local NGS and cytogenetics to assess diagnostic accuracy and ELN risk reclassification. The mean analytical turnaround time was 3-4 days for high-priority mutations and 7 days for gene fusions. Initial rapid screening accurately identified 98% of favourable-risk cases. However, 74% of patients initially classified as intermediate-risk were reclassified as adverse-risk upon integration of NGS and cytogenetics. This CETLAM initiative demonstrates that a centralized molecular platform is a feasible and reliable strategy for early risk stratification and therapeutic decision-making in AML within a multicentre setting.

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Publication Details

Journal
British Journal of Haematology
Published
2026-10-14
DOI
https://doi.org/10.1111/bjh.70865
Primary Topic
Acute Myeloid Leukemia Research
Type
article
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article

Rapid molecular screening of adult AML : Experience from the Spanish CETLAM cooperative group

Francesca Guijarro, Sandra Castaño‐Díez, Olga Salamero, Mar Tormo et al.
British Journal of Haematology
Acute Myeloid Leukemia Research
article

Rapid molecular screening of adult AML : Experience from the Spanish CETLAM cooperative group

Francesca Guijarro, Sandra Castaño‐Díez, Olga Salamero, Mar Tormo, Jordi Esteve, Jorge Sierra, Marta Cervera, Montserrat Arnán Sangerman, Josep F. Nomdedeu, Guillermo Ramil López, Rosa Coll, Helena Castellet, Helena Pomares, Antoni García‐Guiñón, Ferran Vall‐Llovera, Ana Garrido, Marta Pratcorona, Guadalupe Oñate, Susana Vives, Antònia Sampol, M. Mascaró, Marta Gómez, Albert Altes, Sara Garcia, Anna Giné‐Vilalta
article en

Abstract

Genetic testing is essential for risk stratification and early therapeutic decision-making in acute myeloid leukaemia (AML). While 2022 European LeukemiaNet (ELN) guidelines recommend a 3-5-day turnaround time for key molecular markers, next-generation sequencing (NGS) often extends to 15 days in clinical practice. In this study, we evaluated the first-year results of a centralized rapid screening platform for 15 hospitals in the Grupo Cooperativo de Estudio y Tratamiento de las Leucemias Agudas y Mielodisplasias (CETLAM) cooperative group, modelled after the German-Austrian Acute Myeloid Leukaemia Study Group (AMLSG) diagnostic strategy. We prospectively enrolled 211 consecutive adult patients with de novo AML. A centralized laboratory performed nucleic acid purification, biobanking and high-priority molecular analysis including nucleophosmin 1 (NPM1), Fms-like tyrosine kinase 3 (FLT3-ITD/TKD), CCAAT enhancer binding protein alpha (CEBPA), isocitrate dehydrogenase 1 and 2 (IDH1/2), lysine methyltransferase 2A (KMT2A-PTD), upstream binding transcription factor (UBTF-TD) and 10 key fusions using polymerase chain reaction (PCR) and capillary electrophoresis. Results were compared with local NGS and cytogenetics to assess diagnostic accuracy and ELN risk reclassification. The mean analytical turnaround time was 3-4 days for high-priority mutations and 7 days for gene fusions. Initial rapid screening accurately identified 98% of favourable-risk cases. However, 74% of patients initially classified as intermediate-risk were reclassified as adverse-risk upon integration of NGS and cytogenetics. This CETLAM initiative demonstrates that a centralized molecular platform is a feasible and reliable strategy for early risk stratification and therapeutic decision-making in AML within a multicentre setting.

British Journal of Haematology
Hospital Sant Joan de Déu Barcelona (ES), Hospital de Sant Pau (ES), Hospital Universitari Arnau de Vilanova (ES), Hospital Son Llatzer (ES), Hospital Clínico Universitario de Valencia (ES), University Hospital Mútua de Terrassa (ES), Ajuntament de L’Hospitalet (ES), Hospital Clínic de Barcelona (ES), Corporació Sanitària Parc Taulí (ES), Vall d'Hebron Hospital Universitari (ES), Hospital Del Mar (ES), Hospital Universitari Joan XXIII de Tarragona (ES), Hospital Universitario Son Espases (ES)
Good health and well-being
Openalex Percentile: Top 13%
Acute Myeloid Leukemia Research
DOISourceOpenAlex
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