Mutations of NPM1 and FLT3 and deletion of chromosome 5 del(5q) as predictors of myelodysplastic syndrome becoming acute myelocytic leukemia

Aim: This study aimed to determine the predictors of myelodysplastic syndrome (MDS)-related acute myelocytic leukemia (AML). Materials and method: A total of 36 patients, 31 were diagnosed as AML and five others as clinical MDS. Diagnoses were done using peripheral blood smears and bone marrow aspiration. Several tests were done to characterize the patient sample. Results: Immunophenotyping showed that 92% of the overall patient group had a myeloid lineage. A polymerase chain reaction (PCR)-based test found bands characteristic of mutations in FLT3 and NPM1, and the chromogenic in situ hybridization test found a deletion in chromosome 5 del(5q). A logistic regression found the mutations of FLT3 and NPM1 with deletion of 5 del(5q) to be a predictor of MDS-related AML, at P = 0.036. The low and high predictor are <0.782 and >0.782, respectively. Receiving operating curve is a predictor of 76.5% area under curve. The sensitivity, specificity, and cutoff for each were 70.8%, 72.4%, and 0.782. The highest cutoff was in mutations of FLT3 and NPM1 with deletion of 5 del(5q), which stands in 0.969. Conclusion: Thus, mutations in NPM1 and FLT3 and deletion of 5 del(5q) were a predictor toward the changes of MDS into AML in the patients studied.