Abstract

Background: Janus kinase II (JAK 2) mutation plays a critical part in the pathophysiology of myeloid pathologies and has been presented to be tangled in thrombotic obstacles of these sicknesses. This study documents the prevalence of JAK 2 v617 mutations in malignant and non-malignant tumors in the Eastern province of the Kingdom of Saudi Arabia.
Methods: A total of 112 patients were included in the current study between June 2022 and May 2023 at the Molecular Biology Laboratory of the King Fahad Hospital of the University, AlKhobar, Saudi Arabia. Laboratory data involved the hematological parameters (hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin concentration, mean corpuscular hemoglobin, hematocrit, white blood cells, red blood cells, and platelets) and real-time PCR JAK2 V617F mutation qualitative assay.
Results: The prevalence of JAK 2 disease among 112 patients was found to be (n = 13) 12%. White blood cell count was relatively higher in the positive patients, but the difference was statistically nonsignificant (p = 0.846). Similarly, the hemoglobin level among the positive patients was higher, 14.62 g/dL, but still not significantly higher (p = 0.075). However, red blood cell count in the JAK2 patients was significantly higher compared to the negative patients (p = 0.002). Similarly, the percentage of red blood cells measured by HCT test was also significantly higher among the JAK2-positive patients (p = 0.036) compared to the negative patients.
Conclusions: We believe these observations warrant a comprehensive search for activated tyrosine kinases in myeloproliferative disorders and hematological malignancies, as there are likely additional unidentified genetic events with biological and therapeutic significance. Additional in vitro and in vivo studies are needed to determine the cause of the specificity of JAK2 V617F for myeloid and lymphoid diseases.

DOI: 10.7754/Clin.Lab.2024.240943