@article{Ali_Hussain_Malik_Mahmood_Khurshid_Fatima_2021, title={FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS}, volume={71}, url={https://pafmj.org/PAFMJ/article/view/6673}, abstractNote={<p><strong>Objective:</strong> To determine the frequency of Ten-Eleven-Translocation-2 (TET2) gene mutation in Myeloproliferative Neoplasms (MPNs) and to generate a local data for evaluation of disease behavior in ten-eleven-translocation-2 positive and negative Patients.</p> <p><strong>Study Design:</strong> Cross-sectional study.</p> <p><strong>Place and Duration of Study:</strong> Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from Apr 2017 to Apr 2018.</p> <p><strong>Methodology:</strong> A total of 50 adult myeloproliferative neoplasms patients (>18 years of age), diagnosed according to WHO 2016 diagnostic criteria for myeloproliferative neoplasms were included in the study. Mutational screening for ten-eleven-translocation-2 gene was performed by flourescent in situ hybridization technique using Meta Systems XL-TET2 Deletion probe REF D-5038- 100-OG, LOT 18181, manufactured by Meta-Systems GmbH, Robert-Bosch - Germany. Bone marrow samples were used for Fluorescence in situ hybridization analysis. A total of 500 interphases were examined in each of the specimen. Data was entered and analyzed using SPSS-22. Distinctive demographic, haematological and molecular results are summarized by descriptive statistics.</p> <p><strong>Results:</strong> Total 50 cases of myeloproliferative neoplasms (14 CML, 10 PV, 12 essential thrombocythemia (ET) and 14 primary myelofibrosis (PMF) were analyzed. On fluorescent in situ hybridization studies, ten-eleven-translocation-2 mutation was detected in 8 (16%) patients. The mutational frequency among different myeloproliferative neoplasm entities was 4 (28.5%) in chronic myeloid leukemia (CML), 2 (20%) in Polycythemia Vera (PV), 1 (8.3%) in essential thrombocythemia and 1 (7.1%) in primary myelofibrosis respectively. Among the 15 cases, 36 (72%) patients were positive for JAK2V617F mutation while 14 (28%) were positive for BCR-ABL1 mutation. Ten-eleven-translocation-2 mutation observed...................</p>}, number={2}, journal={Pakistan Armed Forces Medical Journal}, author={Ali, Syed Owais and Hussain, Chaudhry Altaf and Malik, Hamid Saeed and Mahmood, Rafia and Khurshid, Ayesha and Fatima, Syeda Sarwat}, year={2021}, month={Apr.}, pages={646–50} }