Clinicohaematological Characteristics, Cytogenetic Profile, and Risk Stratification in Myelodysplastic Syndrome: A Study from Pakistan.

Abstract

Objective: To determine the clinicohaematological characteristics, cytogenetic abnormalities, and risk profiles of treatment-naive Pakistani myelodysplastic syndrome (MDS) patients.

Study design: Descriptive study. Place and Duration of the Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, from June 2019 to 2023.

Methodology: MDS was diagnosed following the World Health Organization (WHO) criteria, with detailed documentation of clinicohaematological parameters and cytogenetic findings. Risk assessment was done using the Revised International Prognostic Scoring System (IPSS-R). Descriptive statistics summarised the patient characteristics, while Chi-square and parametric or non-parametric tests facilitated comparisons. Survival analysis utilised Cox proportional hazard models and Kaplan-Meier survival curves.

Results: A total of 47 MDS patients were assessed, with a median age of 66 years (IQR = 20) and a male predominance (68%). Anaemia (haemoglobin <10 g/dL) was the most frequent presentation, observed in 95.7% of patients. MDS with multilineage dysplasia was the most common subtype, diagnosed in 59.6% of cases. Cytogenetic analyses revealed a normal karyotype in 55.3% of patients, while 44.7% revealed clonal abnormalities, including trisomy 8, monosomy 7, and complex karyotypes. Risk stratification identified 40.4% of patients as low-risk at presentation.

Conclusion: Cytogenetic analysis showed that a normal karyotype was the most prevalent finding, with low-risk disease predominating in risk stratification. These findings provide valuable insights into the clinicohaematological and cytogenetic profiles of MDS patients in the Pakistani population.

Key words: Myelodysplastic syndrome, Cytogenetics, Revised international prognostic scoring system, World Health Organization, Risk stratification.