This study aimed to determine the prevalence and clinical impact of NOTCH-1 mutations among Egyptian patients with acute myeloid leukemia. This study included a cohort of 50 AML patients. DNA extracted samples were analyzed by direct sequencing of PCR products expanding the heterodimerization (HD) domain (exon 26), exon 34 (tad domain) and exon 34 (pest domain) of NOTCH-1 gene. NOTCH 1 mutation was present in 6 cases out of 50 (12%). All NOTCH-1 mutated AML cases have adverse cytogenetic finding. All cases with mutant NOTCH-1 failed to achieve complete remission as compared to unmutated one (P=0.024). Mutant NOTCH-1 cases showed significantly shorter OS when compared to wild NOTCH-1 cases (p<0.001). In conclusion: NOTCH1 mutations had bad deleterious impact on AML patient’s outcome.
Author(s): Salah Aref, Mohamed Sabry, Rasha Rizk, Mohamed El Agdar, Wafaa Fakhry, and Maha Elzafrany