TY - JOUR AU - Latif, Sana AU - Khan, Saleem Ahmed AU - Mahmood, Asad AU - Robert, Helen Mary AU - Mahmood, Rafia PY - 2020/04/30 Y2 - 2024/03/29 TI - FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS JF - Pakistan Armed Forces Medical Journal JA - PAFMJ VL - 70 IS - 2 SE - Original Articles DO - UR - https://www.pafmj.org/PAFMJ/article/view/4179 SP - 308-12 AB - <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> ER -