Mutational Landscape of CEBPA in Mexican Pediatric Acute Myeloid Leukemia Patients: Prognostic Implications.
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Molina Garay Carolina, Carrillo Sánchez Karol, Flores Lagunes Luis Leonardo, Jiménez Olivares Marco, Muñoz Rivas Anallely, Villegas Torres Beatríz Eugenia, Flores Aguilar Hilario, Núñez Enríquez Juan Carlos, Jiménez Hernández Elva, Bekker Méndez Vilma Carolina, Torres Nava José Refugio, Flores Lujano Janet, Martín Trejo Jorge Alfonso, Mata Rocha Minerva, Medina Sansón Aurora, Espinoza Hernández Laura Eugenia, Peñaloza Gonzalez José Gabriel, Espinosa Elizondo Rosa Martha, Flores Villegas Luz Victoria, Amador Sanchez Raquel, Pérez Saldívar María Luisa, Sepúlveda Robles Omar Alejandro, Rosas Vargas Haydeé, Jiménez Morales Silvia, Galindo Delgado Patricia, Mejía Aranguré Juan Manuel, Alaez Verson Carmen
Аннотация
AIM OF THE STUDY: To 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 METHODS: DNA was extracted from bone marrow aspirates at diagnosis. Targeted massive parallel sequencing of CEBPA was performed in 80 patients.
RESULTS: CEBPA 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 (CEBPA BI) mutations were identified in five patients. M2 subtype was the most common in CEBPA positive patients (CEBPA POS) (p = 0.009); 50% of the CEBPA POS patients had a WBC count > 100,000 at diagnosis (p = 0.004). OS > 1 year was significantly better in CEBPA negative (CEBPA NEG) patients (p = 0.0001). CEBPA POS patients (either bi- or monoallelic) had a significantly lower OS (p = 0.002). Concurrent mutations in FLT3, CSF3R, and WT1 genes were found in CEBPA POS individuals. Their contribution to poor OS cannot be ruled out.
CONCLUSION: CEBPA mutational profiles in Mexican pediatric AML patients and their clinical implications were evaluated for the first time. The frequency of CEBPA POS 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.