Calreticulin and JAK2 Exon 12 Mutation Screening in Patients with Myeloproliferative Neoplasms’ in Jeddah Region, Saudi Arabia
Heba Alkhatabi
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia and Center of excellence in genomic medicine research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
Heyam Abdulqayoom
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Raed Alserihi
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia and Center of Innovation in Personalized Medicine (CIPM), King Abdulaziz University, Jeddah, Saudi Arabia.
Raed Felimban
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia and Center of Innovation in Personalized Medicine (CIPM), King Abdulaziz University, Jeddah, Saudi Arabia.
Aisha Elaimi
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia and Center of excellence in genomic medicine research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
Zinab Allala
Center of excellence in genomic medicine research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
Afaf Magboli
Center of excellence in genomic medicine research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
Salem Bahashwan
Hematology Department, faculty of Medicine, King AbdulAziz University, Jeddah, Saudi Arabia.
Hashem Alsalmi
Security force hospital, Riyadh, Saudi Arabia.
Abdulelah Shihah
King Faisal Specialist Hospital & Research Center in Riyadh.
Adel Abuzenadah
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia and Center of excellence in genomic medicine research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
Elrashed B. Yasin *
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Rabigh, Saudi Arabia.
*Author to whom correspondence should be addressed.
Abstract
Background: The JAK2 V617F 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 JAK2V617F negative primary myelofibrosis (PMF), and essential thrombocythemia (ET).
Methods: This study analyzed the impact of JAK 2 Exon 12 and CALR common mutations in 65 patients with JAK2V617F negative MPN from the Jeddah region. An allele-specific polymerase chain reaction (PCR) method was used to screen four common mutations on Exon 12 and direct sequencing and PCR analysis were utilized to screen all patients for CALR.
Results: None of the patients were positive for the Exon 12 mutation and eight patients were positive for CALR mutations.
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. 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.
Keywords: Myeloproliferative neoplasms, JAK2, CALR, primary myelofibrosis and essential thrombocythemia.