<i>CEBPA</i> ‐bZIP Mutations in AML Patients Treated With Non‐Intensive Therapy: A Study by the Spanish PETHEMA Registry

The aim of our study was to analyze the incidence, co-mutation pattern, and prognostic impact of CEBPA gene mutations in a large multicenter consecutive series of 1367 adult patients AML patients treated with non-IT modalities. A total of 83 patients (6.1%) had mutations in CEBPA gene. Among these, 34 (2.5%) harbored mutations located in bZIP domain (bZIP in-frame N = 6) and 49 (3.6%) in other regions of the gene (other CEBPAmut). Genes most frequently co-mutated in these CEBPAmut patients were TET2 (45.8%, N = 38), SRSF2 (42.2%, N = 35), and ASXL1 (40.9%, N = 34). Using the Bradley-Terry model we identified that mutations in MDS-related genes, in TP53, and in epigenetic regulators appear to occur earlier. In contrast, genes involved in activating cell signaling appeared to occur later than CEBPAmut. Overall Survival (OS) of non-IT AML patients was analyzed according to the type of CEBPAmut. Median OS was 11.6 months in CEBPA-bZIP patients compared to 9.0 and 6.9 for patients with other CEBPAmut or CEBPAwt, respectively. When selecting 1129 AML patients treated with HMA or HMA-based combinations, CEBPA-bZIP patients had a median survival time of 11.6 months (range 9.6-NR) and 2.5 years survival probability of 20.1% which were outcomes comparable to remaining ELN2024 favorable patients. We concluded that our series of non-IT AML patients within the PETHEMA registry confirm a low percentage of CEBPA mutated cases which are frequently co-mutated with MDS related genes. Those CEBPA-bZIP cases harbor a similar median OS than those belonging to favorable ELN2024 risk category.

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Journal
Hematological Oncology
Published
2026-01-01
DOI
https://doi.org/10.1002/hon.70162
Primary Topic
Acute Myeloid Leukemia Research
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article
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article

CEBPA ‐bZIP Mutations in AML Patients Treated With Non‐Intensive Therapy: A Study by the Spanish PETHEMA Registry

M. Casado, M. Olave Rubio, Eva Barragán, Jorge Labrador Gómez et al.
Hematological Oncology
Acute Myeloid Leukemia Research
article

CEBPA ‐bZIP Mutations in AML Patients Treated With Non‐Intensive Therapy: A Study by the Spanish PETHEMA Registry

M. Casado, M. Olave Rubio, Eva Barragán, Jorge Labrador Gómez, María Del Pilar Martínez Sánchez, David Martinez‐Cuadrón, Tamara Castaño, Cristina Gil, Esperanza Lavilla‐Rubira, Francisco Ibáñez Alís, Olga Arce Fernández, Teresa Bernal, M. Panero Ruiz, Joaquín Sánchez‐García, Pilar Herrera‐Puente, Mar M. Tormo, Josefina Serrano, Rosa Ayala, B. González González, Ana I. Cabello, J. Simon, J Burgués, M. C. Chillon, María Belén Vidriales Vicente, Maria Dolores Madrigal Toscano, Ágata Almela Gallego, Lorenzo Algarra Algarra, Cristina Bilbao‐Sieyro, Esther Prados de la Torre, Rebeca Rodríguez‐Veiga, Pau Montesinos, Susana Vives, Elena Soria, María José Calasanz
article en

Abstract

The aim of our study was to analyze the incidence, co-mutation pattern, and prognostic impact of CEBPA gene mutations in a large multicenter consecutive series of 1367 adult patients AML patients treated with non-IT modalities. A total of 83 patients (6.1%) had mutations in CEBPA gene. Among these, 34 (2.5%) harbored mutations located in bZIP domain (bZIP in-frame N = 6) and 49 (3.6%) in other regions of the gene (other CEBPAmut). Genes most frequently co-mutated in these CEBPAmut patients were TET2 (45.8%, N = 38), SRSF2 (42.2%, N = 35), and ASXL1 (40.9%, N = 34). Using the Bradley-Terry model we identified that mutations in MDS-related genes, in TP53, and in epigenetic regulators appear to occur earlier. In contrast, genes involved in activating cell signaling appeared to occur later than CEBPAmut. Overall Survival (OS) of non-IT AML patients was analyzed according to the type of CEBPAmut. Median OS was 11.6 months in CEBPA-bZIP patients compared to 9.0 and 6.9 for patients with other CEBPAmut or CEBPAwt, respectively. When selecting 1129 AML patients treated with HMA or HMA-based combinations, CEBPA-bZIP patients had a median survival time of 11.6 months (range 9.6-NR) and 2.5 years survival probability of 20.1% which were outcomes comparable to remaining ELN2024 favorable patients. We concluded that our series of non-IT AML patients within the PETHEMA registry confirm a low percentage of CEBPA mutated cases which are frequently co-mutated with MDS related genes. Those CEBPA-bZIP cases harbor a similar median OS than those belonging to favorable ELN2024 risk category.

Hematological OncologyVol. 44(1)
Universidad de Salamanca (ES), Hospital Universitario de Canarias (ES), Hospital Universitari i Politècnic La Fe (ES), Hospital Universitario Nuestra Señora de Candelaria (ES), Josep Carreras Leukaemia Research Institute (ES), Spanish National Cancer Research Centre (ES), Hospital Universitario Virgen Macarena (ES), Hospital de Basurto (ES), Instituto Maimónides de Investigación Biomédica de Córdoba (ES), Hospital Universitario de Gran Canaria Doctor Negrín (ES), Marqués de Valdecilla University Hospital (ES), Hospital Universitario Puerta de Hierro Majadahonda (ES), Hospital San Pedro de Alcántara (ES), Navarre Institute of Health Research (ES), Hospital Universitario de Burgos (ES), Hospital Universitario Doctor Peset (ES), Hospital General Universitario De Valencia (ES), Hospital Universitario Fundación Jiménez Díaz (ES), Instituto de Biomedicina de Sevilla (ES), Hospital Universitario Central de Asturias (ES), Hospital Clínico Universitario Lozano Blesa (ES), Hospital General Universitario de Alicante Doctor Balmis (ES), Centro de Implantología Cirugía Oral y Maxilofacial (ES), Centro de Investigación del Cáncer (ES), Hospital Universitario Lucus Augusti (ES), Hospital General Universitario de Albacete (ES), INCLIVA Health Research Institute (ES), Hospital Universitario de León (ES), Hospital Universitario Infanta Cristina (ES), Instituto de Investigación Sanitaria La Fe (ES), Instituto de Investigación Sanitaria del Principado de Asturias (ES), Universidad de Burgos (ES), Universidad de Navarra (ES)
Openalex Percentile: Top 94%
Acute Myeloid Leukemia Research
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