JAK۲, CALR, and MPL Mutation Profiles in BCR-ABL Negative Myeloproliferative Neoplasms, a Referral Center Experience in the Middle East

Background: This study was conducted to evaluate the frequency of JAK۲, CALR and MPL mutations in with BCR-ABL myeloproliferative neoplasms and their association with demographic data and hematologic parameters in a referral center, in the Middle East. Methods: Seventy-one patients with BCR-ABL negative myeloproliferative neoplasms were evaluated for JAK۲ V۶۱۷F, CALR type ۱, type ۲, and MPL by allele-specific PCR and conventional PCR from ۲۰۱۸ to ۲۰۱۹. Results:  Twenty three patients were categorized as polycythemia vera and demonstrated JAK۲ V۶۱۷F in ۹۱.۳ % of these cases. Thirty-eight patients were classified as essential thrombocythemia and showed JAK۲ V۶۱۷F in ۵۲.۶%, CALR type ۱ in ۱۸.۴%, CALR type ۲ in ۷.۹% and no mutation in ۲۱.۱%. Seven patients were recognized as primary myelofibrosis and exhibited JAK۲ V۶۱۷F mutation in ۵۷.۱%, CALR type ۱ in ۱۴.۳ %, CALR type ۲ in ۱۴.۳% and no mutation in ۱۴.۳%. Three patients were diagnosed as MPN, unclassifiable and revealed JAK۲ V۶۱۷F mutation in ۳۳.۳% and no mutation in ۶۶.۶%.The age (۵۹.۱۵±۱۳.۱۰) and neutrophil percent (۷۰.۷۸±۱۰.۱۴) were higher in patients with JAK۲ mutation compared to other mutations (p=۰.۰۰۰, and p=۰.۰۳). Platelet count was significantly higher in patients with CALR type ۱ mutation (۱۲۴۰۴۰۰± ۴۰۲۰۵۳) (p=۰.۰۰۰). Conclusion: JAK۲ V۶۱۷F was was associated with patients’ higher age and higher neutrophil count in CBC. CALR mutation had an association with higher platelet count. No MPL mutation was found in this study and it seems that its frequency is lower than what is expected in this region.

کلیدواژه ها:

CALR ، JAK۲ ، MPL ، MPN