JAK2, CALR, and MPL mutations in Egyptian patients with classical Philadelphia-negative myeloproliferative neoplasms

Abstract Background The genetic mutations have been proved to be one of the major criteria in the diagnosis and distinction of different myeloproliferative neoplasms (MPNs) subtypes. Therefore, the aim of this study to determine the molecular profile of Egyptian patients with MPNs subtypes and correlate with clinicopathological status. Methods A series of 200 patients with MPNs (92 polycythemia vera, 68 essential thrombocythemia, and 40 primary myelofibrosis) were included in this study. DNA from each sample was amplified using polymerase chain reaction (PCR) to detect Janus kinase 2 (JAK2), calreticulin (CALR), and myeloproliferative leukemia virus oncogene (MPL) mutations. Sanger sequencing used to determine the mutation types. Results Out of the 200 samples, 44% had JAK2V617F and 10% were carrying CALR mutation with type-2 being the most frequent type in this study (55%). No MPL or JAK2 exon 12 mutations were detected. All clinical and hematological data had no differences with other populations except that our CALR-positive patients showed a decrease in the platelet count compared to those with JAK2V617F-positive. Conclusion Our study on Egyptian patients show a specific molecular profile of JAK2 mutation and CALR mutation type-2 was higher than type-1.