TY - JOUR AU - Ali, Syed Owais AU - Hussain, Chaudhry Altaf AU - Malik, Hamid Saeed AU - Mahmood, Rafia AU - Khurshid, Ayesha AU - Fatima, Syeda Sarwat PY - 2021/04/30 Y2 - 2024/03/28 TI - FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS JF - Pakistan Armed Forces Medical Journal JA - PAFMJ VL - 71 IS - 2 SE - Original Articles DO - UR - https://pafmj.org/PAFMJ/article/view/6673 SP - 646-50 AB - <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 (&gt;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> ER -