@article{Latif_Khan_Mahmood_Robert_Mahmood_2020, title={FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS}, volume={70}, url={https://www.pafmj.org/PAFMJ/article/view/4179}, abstractNote={<p><strong>Objective:</strong> To detect the calreticulin gene mutation in myeloproliferative neoplasms and its clinicohaematological correlation.</p> <p><strong>Study Design:</strong> Cross sectional study.</p> <p><strong>Place and Duration of Study:</strong> Armed Forces Institute of Pathology, from Jun 2017 to Jun 2018.</p> <p><strong>Methodology:</strong> A cross sectional study was conducted at Department of Haematology, Armed Forces Institute of Pathology from June 2017 to June 2018. A total of 48 newly diagnosed JAK2V617F patients with negative myeloproliferative neoplasma were enrolled in the study. Clinico-haematologic features were noted. DNA was extracted from bone marrow samples. Molecular analysis was performed for Calreticulin gene by Sanger Sequencing. Results were analysed by using Genetic Analyser HITACHI 3130.</p> <p><strong>Results:</strong> Of 48 newly diagnosed JAK2V617F negative myeloproliferative neoplasms patients, 38 were male and 10 were females with M:F ratio of 3.8:1. Mean age was 43.5 years (standard deviation ± 15). 9 (18.8%) were diagnosed as polycythemia vera, 21 (43.8%) as Essential thrombocythemia and 18 (37.5%) as having Primary myelofibrosis. CALR mutation was detected in four (8%) of myeloproliferative neoplasms cases. Out of four CALR positive cases, three were diagnosed to have Primary myelofibrosis while only one had a diagnosis of Essential thrombocythemia.</p> <p><strong> Conclusion:</strong> We conclude that CALR mutation was an important molecular marker in JAK2V617F negative patients. Primary myelofibrosis shares a high rate of CALR mutation as compared to polycythemia vera and essential thrombocythemia.</p>}, number={2}, journal={Pakistan Armed Forces Medical Journal}, author={Latif, Sana and Khan, Saleem Ahmed and Mahmood, Asad and Robert, Helen Mary and Mahmood, Rafia}, year={2020}, month={Apr.}, pages={308–12} }