Frequency of BCR-ABL P190 & P210, and JAK2 Mutations in Myeloproliferative Patients in Iran

Abstract

Background: Hematologic malignancies can be divided into two categories: myeloid and lymphoid, each of which is further divided into acute and chronic. Chronic myeloid diseases consist of Myelodysplasia Syndrome (MDS), Myeloproliferative Neoplasms (MPNs), and a rare group of MDS/MPN. According to genetic studies, the prevalence of some mutations related to cell division is higher in these patients. Given that gene analysis is an available way to diagnose the disease quickly, treat it on time, and help promote effective drugs, this study aims to investigate the frequency of JAK2, BCR-ABL P190, and BCR-ABL P210 mutations in patients with neoplasms who refer to Shahid Mostafa Khomeini Hospital, Tehran, Iran, between March 2017 and September 2020. Materials and Methods: The blood samples of the patients were analyzed by PCR for the expression of BCR-ABL P190, BCR-ABL P210, and JAK2 genes to investigate any potential relationship between malfunctioned genes and the existing medical condition. Results: The mean age of the study patients was 60.5±14.7 years. Of whom 28 (53.8%) were male, and the other 24 (46.2%) were female. Also, 29 patients (55.8%) had Essential Thrombocythemia (ET), 37 patients (71.2%) had at least one of the studied mutations, 21 patients (40.4%) had JAK2 mutation, and 16 patients (31.8%) had BCR-ABL mutation. There was no significant relationship between gender and any of the studied variables. Type of disease had a significant relationship with the studied mutations. Conclusion: All CML cases in this study had at least one of three types of mutations. The type of medical condition was significantly associated with the studied mutations, for example, CML patients had fewer JAK2 and more BCR-ABL gene mutations. gender was not significantly related to any factor in the study. There was no mortality during the study. All the patients were alive, and most of them (88.5%) were in remission.