FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS

  • Syed Owais Ali Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Chaudhry Altaf Hussain Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Hamid Saeed Malik Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Rafia Mahmood Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Ayesha Khurshid Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Syeda Sarwat Fatima Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
Keywords: Flourescent in situ hybridization, Ten-eleven-translocation-2, JAK2V617F, Myeloproliferative neoplasms, OS

Abstract

Objective: 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.

Study Design: Cross-sectional study.

Place and Duration of Study: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from Apr 2017 to Apr 2018.

Methodology: 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.

Results: 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...................

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Published
2021-04-30
How to Cite
Ali, S., Hussain, C., Malik, H., Mahmood, R., Khurshid, A., & Fatima, S. (2021). FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS. PAFMJ, 71(2), 646-50. Retrieved from https://mail.pafmj.org/index.php/PAFMJ/article/view/6673
Section
Original Articles

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