FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS

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. Pla...

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Autores principales:	Syed Owais Ali, Chaudhry Altaf Hussain, Hamid Saeed Malik, Rafia Mahmood, Ayesha Khurshid, Syeda Sarwat Fatima
Formato:	article
Lenguaje:	EN
Publicado:	Army Medical College Rawalpindi 2021
Materias:	flourescent in situ hybridization ten-eleven-translocation-2 jak2v617f myeloproliferative neoplasms os Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/c7d51ac6220d42e7bd84b5e651849042
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spelling	oai:doaj.org-article:c7d51ac6220d42e7bd84b5e6518490422021-12-02T16:32:52ZFREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS0030-96482411-8842https://doaj.org/article/c7d51ac6220d42e7bd84b5e6518490422021-04-01T00:00:00Zhttps://pafmj.org/index.php/PAFMJ/article/view/6673https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842Objective: 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...................Syed Owais AliChaudhry Altaf HussainHamid Saeed MalikRafia MahmoodAyesha KhurshidSyeda Sarwat FatimaArmy Medical College Rawalpindiarticleflourescent in situ hybridizationten-eleven-translocation-2jak2v617fmyeloproliferative neoplasmsosMedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 71, Iss 2, Pp 646-50 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	flourescent in situ hybridization ten-eleven-translocation-2 jak2v617f myeloproliferative neoplasms os Medicine R Medicine (General) R5-920
spellingShingle	flourescent in situ hybridization ten-eleven-translocation-2 jak2v617f myeloproliferative neoplasms os Medicine R Medicine (General) R5-920 Syed Owais Ali Chaudhry Altaf Hussain Hamid Saeed Malik Rafia Mahmood Ayesha Khurshid Syeda Sarwat Fatima FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS
description	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...................
format	article
author	Syed Owais Ali Chaudhry Altaf Hussain Hamid Saeed Malik Rafia Mahmood Ayesha Khurshid Syeda Sarwat Fatima
author_facet	Syed Owais Ali Chaudhry Altaf Hussain Hamid Saeed Malik Rafia Mahmood Ayesha Khurshid Syeda Sarwat Fatima
author_sort	Syed Owais Ali
title	FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS
title_short	FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS
title_full	FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS
title_fullStr	FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS
title_full_unstemmed	FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS
title_sort	frequency of tet2 gene mutation in myeloproliferative neoplasms
publisher	Army Medical College Rawalpindi
publishDate	2021
url	https://doaj.org/article/c7d51ac6220d42e7bd84b5e651849042
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FREQUENCY OF TET2 GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS

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