Clinico-pathological and molecular profile of myeloproliferative neoplasms- An Observational Study.

Abstract

Background and Objectives: Myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell disorders with variable clinical, morphological, and molecular characteristics. The study aimed to evaluate the clinico-pathological features, hematologic parameters, peripheral smear findings, bone marrow morphology, and molecular/cytogenetic profiles of MPN patients at a tertiary care center.

Methods: This was a cross-sectional observational study conducted over 2 years in a tertiary care teaching hospital. Fifty patients diagnosed with MPNs—including Chronic Myeloid Leukemia (CML), Primary Myelofibrosis (PMF), Polycythemia Vera (PV), and Essential Thrombocythemia (ET)—were enrolled. Detailed clinical history, examination findings, complete hemogram, peripheral smear, bone marrow studies, and molecular assays (BCR::ABL1, JAK2 V617F mutation) were recorded and analyzed. Descriptive statistics and subgroup comparisons were performed.

Results: CML was the most frequent MPN subtype (56%), followed by PMF (24%), PV (16%), and ET (4%). The median age of presentation was lowest in PV (47 years) and highest in ET (66 years), with a male predominance in all subtypes except PV. Fatigue and abdominal fullness were the most common presenting symptoms. Comorbidities such as hypertension and diabetes were common in CML and PMF. Palpable splenomegaly was seen in 68% of patients, with ultrasound confirming splenomegaly in 92%. Hematologic parameters revealed leukocytosis in CML, anemia in PMF, and thrombocytosis in PV/ET. Bone marrow showed classical morphological patterns for each MPN subtype. BCR::ABL1 was detected in all CML patients, while JAK2 V617F mutation was positive in 87.5% of PV, 50% of ET, and 41.7% of PMF patients.

Interpretation and Conclusion: MPNs present with diverse clinical and laboratory profiles, necessitating an integrated approach using clinical examination, hematological analysis, bone marrow morphology, and molecular testing. CML remains the predominant MPN subtype, and younger age at presentation in Indian patients compared to Western cohorts warrants further population-based studies.