A retrospective analysis of patients with myelodysplastic syndrome at a South Indian tertiary care hospital using risk stratification tools

ABSTRACT Background: Next-generation sequencing (NGS) refines prognosis in myelodysplastic syndrome (MDS) as TP53 mutations in up to 20% of lower-risk del (5q) patients predict higher acute myeloid leukemia transformation. Additional mutations ( SF3B1 , U2AF1 , ASXL1 , SRSF2 ) impact outcomes, though Indian data on the molecular international prognostic scoring system (m-IPSS) are limited. Objectives: The primary objective was to evaluate the impact of incorporating molecular data, specifically NGS results, into the risk stratification of MDS using the m-IPSS. The secondary objective was to assess its potential effect on clinical outcomes. Materials and Methods: This retrospective study was conducted among 59 adult patients with confirmed MDS between January 2018 and June 2022 at M.S. Ramaiah Medical College, Bengaluru, Karnataka. Patients with inconclusive diagnoses and secondary MDS were excluded. Data collected included demographics, clinical parameters, and cytogenetic and NGS results, along with treatment outcomes. Results: The median age at diagnosis was 61 years, with a male predominance of 38 patients (64.4%). Cytogenetic analysis revealed good risk characteristics, such as 5q deletion, in 10 patients (16.9%), with 7 (11.9%) having isolated 5q deletion. Incorporating m-IPSS led to upstaging of 27 patients (45.8%) and downstaging of 2 patients (3.4%). With a median follow-up of 9.2 months, the observed median overall survival (OS) was 1.67 years, compared with the expected OS of 2.8 years based on m-IPSS scores. TP53 mutations correlated with adverse outcomes (median OS 0.6 years, P < 0.001). Conclusion: NGS significantly impacts MDS risk stratification through m-IPSS, highlighting the importance of molecular data in clinical decision-making.