Academic Journal
Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications
| العنوان: | Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications |
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| المؤلفون: | Carolina Molina Garay, Karol Carrillo Sánchez, Luis Leonardo Flores Lagunes, Marco Jiménez Olivares, Anallely Muñoz Rivas, Beatríz Eugenia Villegas Torres, Hilario Flores Aguilar, Juan Carlos Núñez Enríquez, Elva Jiménez Hernández, Vilma Carolina Bekker Méndez, José Refugio Torres Nava, Janet Flores Lujano, Jorge Alfonso Martín Trejo, Minerva Mata Rocha, Aurora Medina Sansón, Laura Eugenia Espinoza Hernández, José Gabriel Peñaloza Gonzalez, Rosa Martha Espinosa Elizondo, Luz Victoria Flores Villegas, Raquel Amador Sanchez, María Luisa Pérez Saldívar, Omar Alejandro Sepúlveda Robles, Haydeé Rosas Vargas, Silvia Jiménez Morales, Patricia Galindo Delgado, Juan Manuel Mejía Aranguré, Carmen Alaez Verson |
| المصدر: | Frontiers in Pediatrics, Vol 10 (2022) |
| بيانات النشر: | Frontiers Media S.A. |
| سنة النشر: | 2022 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | CEBPA, pediatric, Mexican, AML, survival, risk-stratification, Pediatrics, RJ1-570 |
| الوصف: | BackgroundIn Mexico, the incidence of acute myeloid leukemia (AML) has increased in the last few years. Mortality is higher than in developed countries, even though the same chemotherapy protocols are used. CCAAT Enhancer Binding Protein Alpha (CEBPA) mutations are recurrent in AML, influence prognosis, and help to define treatment strategies. CEBPA mutational profiles and their clinical implications have not been evaluated in Mexican pediatric AML patients.Aim of the StudyTo identify the mutational landscape of the CEBPA gene in pediatric patients with de novo AML and assess its influence on clinical features and overall survival (OS).Materials and MethodsDNA was extracted from bone marrow aspirates at diagnosis. Targeted massive parallel sequencing of CEBPA was performed in 80 patients.ResultsCEBPA was mutated in 12.5% (10/80) of patients. Frameshifts at the N-terminal region were the most common mutations 57.14% (8/14). CEBPA biallelic (CEBPABI) mutations were identified in five patients. M2 subtype was the most common in CEBPA positive patients (CEBPAPOS) (p = 0.009); 50% of the CEBPAPOS patients had a WBC count > 100,000 at diagnosis (p = 0.004). OS > 1 year was significantly better in CEBPA negative (CEBPANEG) patients (p = 0.0001). CEBPAPOS patients (either bi- or monoallelic) had a significantly lower OS (p = 0.002). Concurrent mutations in FLT3, CSF3R, and WT1 genes were found in CEBPAPOS individuals. Their contribution to poor OS cannot be ruled out.ConclusionCEBPA mutational profiles in Mexican pediatric AML patients and their clinical implications were evaluated for the first time. The frequency of CEBPAPOS was in the range reported for pediatric AML (4.5–15%). CEBPA mutations showed a negative impact on OS as opposed to the results of other studies. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2296-2360 |
| Relation: | https://www.frontiersin.org/articles/10.3389/fped.2022.899742/full; https://doaj.org/toc/2296-2360; https://doaj.org/article/7fa1cb598cc94178b175a54b2716be87 |
| DOI: | 10.3389/fped.2022.899742 |
| الاتاحة: | https://doi.org/10.3389/fped.2022.899742 https://doaj.org/article/7fa1cb598cc94178b175a54b2716be87 |
| رقم الانضمام: | edsbas.321E8EAF |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 22962360 |
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| DOI: | 10.3389/fped.2022.899742 |