FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS
Objective: To detect the calreticulin gene mutation in myeloproliferative neoplasms and its clinicohaematological correlation. Study Design: Cross sectional study. Place and Duration of Study: Armed Forces Institute of Pathology, from Jun 2017 to Jun 2018. Methodology: A cross sectional stu...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Army Medical College Rawalpindi
2020-04-01
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| Series: | Pakistan Armed Forces Medical Journal |
| Subjects: | |
| Online Access: | https://www.pafmj.org/index.php/PAFMJ/article/view/4179/2598 |
| _version_ | 1818838626152218624 |
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| author | Sana Latif Saleem Ahmed Khan Asad Mahmood Helen Mary Robert Rafia Mahmood |
| author_facet | Sana Latif Saleem Ahmed Khan Asad Mahmood Helen Mary Robert Rafia Mahmood |
| author_sort | Sana Latif |
| collection | DOAJ |
| description | Objective: To detect the calreticulin gene mutation in myeloproliferative neoplasms and its clinicohaematological correlation.
Study Design: Cross sectional study.
Place and Duration of Study: Armed Forces Institute of Pathology, from Jun 2017 to Jun 2018.
Methodology: 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.
Results: 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.
Conclusion: 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. |
| first_indexed | 2024-12-19T03:41:23Z |
| format | Article |
| id | doaj.art-f4df012eb0bb49ec95193339f99ecf83 |
| institution | Directory Open Access Journal |
| issn | 0030-9648 2411-8842 |
| language | English |
| last_indexed | 2024-12-19T03:41:23Z |
| publishDate | 2020-04-01 |
| publisher | Army Medical College Rawalpindi |
| record_format | Article |
| series | Pakistan Armed Forces Medical Journal |
| spelling | doaj.art-f4df012eb0bb49ec95193339f99ecf832022-12-21T20:37:13ZengArmy Medical College RawalpindiPakistan Armed Forces Medical Journal0030-96482411-88422020-04-01702308312FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMSSana Latif0Saleem Ahmed Khan1Asad Mahmood2Helen Mary Robert3Rafia Mahmood4Armed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi PakistanArmed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi PakistanArmed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi PakistanArmed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi PakistanArmed Forces Institute of Pathology/National University of Medical Sciences (NUMS) Rawalpindi PakistanObjective: To detect the calreticulin gene mutation in myeloproliferative neoplasms and its clinicohaematological correlation. Study Design: Cross sectional study. Place and Duration of Study: Armed Forces Institute of Pathology, from Jun 2017 to Jun 2018. Methodology: 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. Results: 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. Conclusion: 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.https://www.pafmj.org/index.php/PAFMJ/article/view/4179/2598calreticulin geneessential thrombocythemiamyeloproliferative neoplasms |
| spellingShingle | Sana Latif Saleem Ahmed Khan Asad Mahmood Helen Mary Robert Rafia Mahmood FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS Pakistan Armed Forces Medical Journal calreticulin gene essential thrombocythemia myeloproliferative neoplasms |
| title | FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS |
| title_full | FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS |
| title_fullStr | FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS |
| title_full_unstemmed | FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS |
| title_short | FREQUENCY OF CALR GENE MUTATION IN MYELOPROLIFERATIVE NEOPLASMS |
| title_sort | frequency of calr gene mutation in myeloproliferative neoplasms |
| topic | calreticulin gene essential thrombocythemia myeloproliferative neoplasms |
| url | https://www.pafmj.org/index.php/PAFMJ/article/view/4179/2598 |
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