JAK2 V617F mutation is uncommon in adult T cell leukemia/lymphoma

Background and Aim:Adult T-cell Leukemia/lymphoma (ATLL) is a mature T-cell neoplasm that has strongassociation with the HTLV-1 infection. This infection is endemic in our region (north easternIran). It has been highlighted that Janus Kinase family proteins (JAKs) and specially JAK2mutation have a pivotal role in the development of many types of hematological malignanciesand in particular myeloproliferative neoplasms (MPNs). So far, the underlying molecularmechanisms leading to the ATLL are not well understood. Therefore, in this study it washypothesized that JAK2 (V617F) mutation may be present in samples from patients withATLL.Material and method:This case control study was performed in north-eastern Iran. Using ARMS-PCR, JAK2(V617F) mutation was surveyed in 20 DNA samples from ATLL patients (verified bylaboratory and clinical findings) and 20 HTLV-1 asymptomatic carriers (control group).Statistical Analysis and data management were performed using statistical software.Results:In the case group 13 (65%) and 7 patients (35%) were male and female respectively, with theage range between 40 and 80 years. JAK2 mutation was absent in 95% of ATLL patients aswell as the HTLV-1 asymptomatic carriers.Conclusion:In the current study, it was demonstrated that JAK2 mutation is absent in the molecularpathogenesis of ATLL. However, further studies are required to investigate the possibledysregulation of JAK signaling in ATLL.

کلیدواژه ها:

JAK2 (V617F) ، Adult T-cell Leukemia/ Lymphoma (ATLL) ، PCR ، HTLV-1 ، Janus Kinases (JAKs)