International Journal of Genetics and Genomics
Volume 5, Issue 5, October 2017, Pages: 49-53
Received: Feb. 27, 2017;
Accepted: Apr. 21, 2017;
Published: Oct. 18, 2017
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Anas Abdelrahman Ibrahim, Department of Hematology & Immunohematology, Faculty of Medical Laboratory Sciences, Omdurman Islamic University, Khartoum, Sudan
Eltahir Awad Gasim Khalil, Department of Clinical Pathology & Immunology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
Transformation of myeloproliferative disorders (MPDs) to acute leukemia is an evitable event that represents a stumbling block in the management of patients. The Janus Kinase-2 JAK2V617F mutation of MDP does not clarify the phenotypic variability observed in this disorder. But, a mutations in Ten-eleven-translocation-2 (TET2), a putative tumor suppressor gene, was recently implicated in MPDs and other hematologic malignancies. TET-2 is believed to play a role in leukemic transformation. This study aimed to determine the frequency of L1721W polymorphism in TET2 gene in a cohort of Sudanese patients with MPDs. Following informed consent, 25 (25/50, 50%) patients with polycythemia rubra vera (PRV), thirteen patients (13/50, 26%) with essential thrombocythemia (ET), eleven patients (11/50, 22%) with chronic myeloid leukemia (CML), and one patient (1/50, 2%) with primary myelofibrosis (PMF) were enrolled. None of the patients was in the transformation phase. Patients were diagnosed based on clinical picture, hematological parameters and JAK2V617F and BCR_ABL molecular aberrations. JAK2V617F was detected in Ph-negative-MPDs cases as (24/25, 96%) in PRV, (10/13, 76%) in ET, and (1/1, 100%) in PMF. BCR_ABL fusion was detected in all (11/11, 100%) cases of CML. DNA was extracted using the guanidine chloride method, followed by (PCR-RFLP) analysis. Only one patient showed the presence of L1721W polymorphism of the TET2. It was inferred that the low frequency of this transformation within the study cohort [all in chronic phase] probably indicates that it plays a minor role in MPD pathogenesis, while its role in blast transformation needs further studies in MPD patients.
Anas Abdelrahman Ibrahim,
Eltahir Awad Gasim Khalil,
Frequency of L1721W Polymorphism in TET2 Gene Among a Cohort of Sudanese Patients with Myeloproliferative Disorders: Possible Roles in Pathogenicity and Leukemic Transformation, International Journal of Genetics and Genomics.
Vol. 5, No. 5,
2017, pp. 49-53.
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