Clinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome

<b>Background/Objectives</b>: Genetic abnormalities are critical for the diagnosis, prognosis, and therapeutic management of myelodysplastic syndromes (MDS). This study aims to evaluate the clinical utility of Multiplex Ligation-dependent Probe Amplification (MLPA) as a rapid and cost-effective method, determining its place alongside Next-Generation Sequencing (NGS) for the initial genetic assessment of patients with MDS. <b>Methods</b>: Bone marrow samples from 68 patients newly diagnosed with MDS were analyzed. Genomic DNA was investigated using the SALSA MLPA P414-C1 MDS probe mix to detect common copy number variations (CNVs). <b>Results</b>: MLPA detected genetic variants in 25 patients (36.8%). The most common finding was a single chromosomal abnormality (26.5%). Multiple pathological findings were observed in only 1.5% of patients, and a <i>JAK2</i> mutation was observed in 8.8% of the cohort. However, the presence of these aberrations did not show a statistically significant association with overall survival (OS) in the cohort. Patient sex was identified as the only variable that was associated with a marginal level of statistical significance regarding OS, indicating a worse prognosis for males. <b>Conclusions</b>: MLPA is a valuable, rapid, and cost-effective tool for initial genetic screening in low-resource settings. This was highlighted by our finding that sex was the sole significant prognostic factor, while the MLPA-detected variants were not found to be significant. The findings suggest that comprehensive risk stratification aligned with international standards requires more advanced molecular technologies.