NRAS, RUNX1 POLYMORPHISM AND CHROMOSOME 5 DELETION [DEL(5q)] AS MYELODYSPLASTIC SYNDROME RELATED ACUTE MYELOID LEUKEMIA PREDICTOR IN SURABAYA

Myelodysplastic syndrome (MDS) is a well-organized hematopoiesis (Apoptosis) that becomes dysplastic and ineffective (Anti-Apoptosis). It is characterized by a slight increase in the number of immature blood cells (Blasts) in bone marrow, which can develop into acute myeloid leukemia (AML; MDS-related AML). In this study, Researchers sought to determine whether abnormalities in NRAS, RUNX1, and chromosome 5 deletion (del[5q]) can be used as predictors of MDS-related AML. This study employed an analytical cross-sectional design involving a total of 36 samples, consisting of 31 confirmed AML cases and 5 clinically diagnosed MDS cases. The occurrence of NRAS, RUNX1 mutations, and deletion of chromosome 5 deletion (del[5q]) was examined using polymerase chain reaction (PCR) and chromogenic in situ hybridization (CISH). Our analysis demonstrates that NRAS and RUNX1 mutations, alongside chromosome 5q deletion (del[5q]), are significantly associated with the progression of MDS-related AML. Statistical evaluation via ROC curve showed an AUC of 0.765 (95% CI, p=0.036), demonstrating the model’s significant performance in predicting disease progression. Above or below the cut-off value (0.7825584010 ) indicates strong or weak predictions of MDS-related AML based on the ROC curve. Mutation of RUNX1 coefficient B-1.694 and exponent B 0.184 decreased the progression to MDS-related AML, while NRAS mutation coefficient 2.446 and exponent B 11.53 increased the progression of MDS-related AML. Normal cytogenetics of Chromosome 5, RUNX1 mutation inhibits progression, while NRAS mutation increases progression of MDS-related AML. NRAS and RUNX1 mutations, as well as Chromosome 5 deletion (del[5q]) can be strong predictors of progression to MDS-related AML in Surabaya.