Molecular alterations in the GATA-2, RUNX1, C/EBPα and hTERT genes in patients with aplastic anemia by MLPA

Aplastic anemia (AA) is a disease characterized by a severe reduction of the erythroid lineage. Its molecular mechanisms have been studied using technologies such as whole-exome sequencing via NGS; however, this remains a costly and limited-access strategy for developing countries. In this study, 17 de novo patients diagnosed with AA were analyzed. Genomic DNA was isolated from each patient to perform the Multiplex Ligation-dependent Probe Amplification (MLPA) technique, which uses different probes to detect numerical alterations in the exons of the genes of interest (GATA2, RUNX1, C/EBPα, hTERT). In 70.9% cases, a molecular abnormality was found. GATA2 was the most frequently altered gene (58.8%), followed by TERT (47.0%), RUNX1 (41.1%), and finally C/EBPα (35.3%). Detecting these molecular alterations could help to understand the progression of AA to other hematologic malignancies due to the genomic instability associated with this panel of genes involved in various hematopoietic maturation processes.