Clinical Presentation and Outcomes of Patients with Myelodysplastic syndrome

Abstract

Objective: To analyze the clinical presentation, treatment outcomes, and survival patterns of MDS patients in Pakistan, addressing critical gaps in LMIC-specific data.

Methodology: This single-centre cohort study was conducted at the Armed Forces Bone Marrow Transplant Centre between January 2019 and December 2023, included 128 patients diagnosed with MDS per WHO 2016 criteria. Treatment strategies were categorized as palliative (growth factors, immunosuppressants) or definitive (hypomethylating agents [HMA], venetoclax, stem cell transplantation [HSCT]). Patients were followed-up and analysed for disease and survival outcomes.

Results: The cohort demonstrated a male predominance (3:1 ratio) with a mean age of 52.5 ±17.01 years. Anemia (85.9%), infections (27.3%), and bleeding (20.3%) were common presentations. Risk stratification revealed 44.5% lower-risk (very low/low IPSS-R) and 55.5% higher-risk (intermediate/high/very high IPSS-R) disease. Definitive therapy achieved 11% complete remission (CR) rates while palliative regimen showed 10.9%low transfusion dependence or transfusion independence after 1st line treatment. HSCT recipients (13.3%) had neutrophil engraftment at 13 days (IQR:12–14) and platelet engraftment at 21.4 days. The overall survival (OS) rate was 42.5% with median survival days of440 while disease free survival (DFS) rate was 22.7% with mean DFS days of 456.OS differed significantly by risk: 75% for very low-risk vs. 0% for very high-risk patients (p=0.01).Myeloablative conditioning (MAC) improved OS to 56% versus 7.7% in non-transplant high-risk patients.

Conclusion: This study highlights distinct MDS characteristics in LMICs, including younger age at diagnosis and stark outcome disparities linked to risk stratification and treatment access. While HSCT demonstrated survival benefits in intermediate-risk patients, limited CR rates with HMA-venetoclax underscore the need for optimized regimens. The findings emphasize urgent requirements for LMIC-tailored diagnostic protocols, expanded transplant infrastructure, and risk-adapted therapeutic strategies to address challenges in management of MDS.