Carlituculin and JAK2 Exon 12 Mutation Screening in Patients with Myeloproliferative Neoplasm’s in Jeddah Region, Saudi Arabia

Abstract PurposeThe JAK2V617F mutation’s discovery has largely facilitated the comprehension of the myeloproliferative neoplasms (MPNs) pathogenesis. In recent times, calreticulin (CALR) mutations have been detected in patients with negative MPNs for JAK2V617F. The CALR gene mutations have been reported in patients with negative JAK2V617F, primary myelofibrosis (PMF), and essential thrombocythemia (ET). This study analyzed the impact of JAK2 Exon 12 and CALR common mutations on MPN patients from the Jeddah region.MethodsAn allele-specific polymerase chain reaction (PCR) method was used to screen four common mutations on Exon 12. Consequently, the results showed that none of the patients were positive for the Exon 12 mutation. Direct sequencing and PCR analysis were utilized to screen all patients for CALR. Results The impact of CALR and JAK2 Exon 12 in 65 patients with a variety of MPN symptoms was investigated. This study included patients who had negative results, when previously screened for JAK2V617F. CALR mutations were identified in eight patients out of 65 JAK2V617F and JAK2 Exon 12 negative patients in this study’s cohort. Conclusions This is the first Saudi Arabian research that focused on screening CALR hotspot mutations, and this mutation exists. This fact highlights the importance of implementing diagnostic screening of CALR on MPN patients, in general, and patients with high platelet count, in particular. In addition, further screening of other predisposing genetic markers might facilitate the identification of an important genetic variant, which could aid in the understanding of disease pathogenesis.