Publication: Investigation of exon 12 mutations in the janus kinase 2 (jak 2) gene among polycythemia vera patients from Hospital Pakar Universiti Sains Malaysia
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Date
2025-01
Authors
Hanizam, Nur Hasya Athirah
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Abstract
Polycythemia vera (PV) is a myeloproliferative disorder characterized by excessive red blood cell production. While JAK2 V617F mutations have been extensively studied, mutations in JAK2 exon 12 remain under-explored. This study aimed to determine the prevalence of JAK2 exon 12 mutations among PV patients at Hospital Pakar Universiti Sains Malaysia (HPUSM) and explore their associations with clinical and hematological parameters. A total of 86 PV patients were screened for JAK2 exon 12 mutations using polymerase chain reaction (PCR) followed by Sanger sequencing. Patients were categorized into groups based on the presence of JAK2 exon 12 mutations, JAK2 V617F mutations, both mutations, or neither. Clinical data, including age, gender, splenomegaly, and thrombosis, were obtained from medical records. Hematological parameters, such as hemoglobin, hematocrit, white blood cell (WBC) count, platelet count, and lactate dehydrogenase (LDH), were analyzed. Fifteen patients tested positive for JAK2 exon 12 mutations, revealing two mutation types such as insertion mutations and point mutations. Interestingly, co-occurrence of JAK2 V617F and exon 12 mutations was found in eight patients (9.32%), indicating the potential for complex genetic mechanisms. Patients with both JAK2 V617F and exon 12 mutations had the highest mean age and elevated platelet and WBC counts, indicating a more aggressive disease course. JAK2 V617F mutations were associated with higher rates of thrombosis and splenomegaly compared to exon 12-only mutations. Morphological analysis revealed hypercellularity in the bone marrow of JAK2 exon 12-positive patients, with significant erythroid and megakaryocytic proliferation. This study underscores the clinical significance of JAK2 exon 12 mutations, highlighting their distinct impact on disease progression and clinical features compared to JAK2 V617F mutations
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