# Landscape of somatic mutations in myeloproliferative neoplasm in Pakistani population

## TL;DR

This study analyzed genetic mutations in myeloproliferative neoplasm patients in Pakistan to aid in diagnosis before treatment.

## Contribution

The study provides mutation frequency data specific to the Pakistani MPN population using established diagnostic criteria.

## Key findings

- JAK2 V617F mutation was most common in polycythemia vera patients (52.6%).
- CALR mutations were rare in primary myelofibrosis but present in essential thrombocytosis.
- cMPL mutations were not detected in any of the patients.

## Abstract

This study aimed to screen myeloproliferative neoplasm (MPN) patients for four known genetic variants to establish a diagnosis before treatment.

This descriptive cross-sectional study was conducted at the Armed Forces Bone Marrow Transplant Center (AFBMTC), Rawalpindi, between January 2018 to January 2021. A total of 159 MPN patients were enrolled. Peripheral blood samples were screened for somatic variants in JAK2 V617F, JAK2 exon 12, CALR, and cMPL genes. The JAK2 V617F and cMPL mutations were analyzed using conventional PCR, while JAK2 Exon 12 and CALR mutations were analyzed using the fragment analysis technique. The gene scan data was interpreted by analyzing the electropherograms and the genotyping data sheet. The data were analyzed using the Statistical Package for Social Sciences (SPSS) version 25.0.

Out of a total of 159 MPN patients, 104 (65.4%) were males and 55 (34.6%) females. The median age of patients was 54 years (IQR: 38-64). 69 (43.4%) were diagnosed with primary myelofibrosis (PMF), 60 (37.7%) as polycythemia vera (PV), and 30 (18.9%) as essential thrombocytosis (ET). The frequency of the JAK2 V617F mutation in PV, ET, and PMF patients was 52.6%, 11.1%, and 37.3%, respectively. CALR mutation was observed only in 1 PMF and 5 (16.7%) ET patients. Additionally, cMPL mutation was not found among our patients.

The four analyzed mutations are among the diagnostic criteria established by the World Health Organization, which enable a quick and reliable diagnosis of MPN.