Mutation profile in Indian primary myelofibrosis patients and its clinical implications
Background: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by abnormal proliferation of megakaryocytes, bone marrow fibrosis, and extramedullary hematopoiesis. We did mutation profile of 50 patients of PMF and tried to correlate it with initial clinical presentation...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2019-01-01
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| Series: | South Asian Journal of Cancer |
| Subjects: | |
| Online Access: | http://journal.sajc.org/article.asp?issn=2278-330X;year=2019;volume=8;issue=3;spage=186;epage=188;aulast=Patil |
| _version_ | 1818847107219456000 |
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| author | Vinod R Patil S Chandrakala Shruti Mantri Rajesh Patil Nilesh Wasekar Farah Jijina |
| author_facet | Vinod R Patil S Chandrakala Shruti Mantri Rajesh Patil Nilesh Wasekar Farah Jijina |
| author_sort | Vinod R Patil |
| collection | DOAJ |
| description | Background: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by abnormal proliferation of megakaryocytes, bone marrow fibrosis, and extramedullary hematopoiesis. We did mutation profile of 50 patients of PMF and tried to correlate it with initial clinical presentation of these patients. Materials and Methods: All new and follow up patients who were diagnosed as PMF based on WHO 2016 definition of PMF were included. Mutation profile of these patients including JAK2 V617F, JAK2 exon 12, CALR and MPL mutations was done and all clinical, demographic and laboratory details were recorded. Results: Total 50 patients were enrolled out of which 29 were males and 21 were females. Out of these patients, 32 (64%) were JAK2 positive, 13 (26%) were CALR positive, 1 (2%) were MPL positive and 4 (8%) were triple negative. As compared to JAK2+ve patients and triple negative group, CALR positive patients were younger, had lower total leucocyte count, larger spleen size, lower dynamic international prognostic scoring system (DIPSS) score and higher grade of fibrosis of marrow. Conclusion: This study depicts that incidence of JAK2 and CALR mutations in Indian PMF patients is fairly similar to that in rest of the world. CALR positive patients have better clinical parameters at presentation and have better prognosis as compared to JAK2 positive patients. |
| first_indexed | 2024-12-19T05:56:11Z |
| format | Article |
| id | doaj.art-da83a3a35d6b4eb4b49cab1da271a4bb |
| institution | Directory Open Access Journal |
| issn | 2278-330X |
| language | English |
| last_indexed | 2024-12-19T05:56:11Z |
| publishDate | 2019-01-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | South Asian Journal of Cancer |
| spelling | doaj.art-da83a3a35d6b4eb4b49cab1da271a4bb2022-12-21T20:33:27ZengThieme Medical and Scientific Publishers Pvt. Ltd.South Asian Journal of Cancer2278-330X2019-01-018318618810.4103/sajc.sajc_276_18Mutation profile in Indian primary myelofibrosis patients and its clinical implicationsVinod R PatilS ChandrakalaShruti MantriRajesh PatilNilesh WasekarFarah JijinaBackground: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by abnormal proliferation of megakaryocytes, bone marrow fibrosis, and extramedullary hematopoiesis. We did mutation profile of 50 patients of PMF and tried to correlate it with initial clinical presentation of these patients. Materials and Methods: All new and follow up patients who were diagnosed as PMF based on WHO 2016 definition of PMF were included. Mutation profile of these patients including JAK2 V617F, JAK2 exon 12, CALR and MPL mutations was done and all clinical, demographic and laboratory details were recorded. Results: Total 50 patients were enrolled out of which 29 were males and 21 were females. Out of these patients, 32 (64%) were JAK2 positive, 13 (26%) were CALR positive, 1 (2%) were MPL positive and 4 (8%) were triple negative. As compared to JAK2+ve patients and triple negative group, CALR positive patients were younger, had lower total leucocyte count, larger spleen size, lower dynamic international prognostic scoring system (DIPSS) score and higher grade of fibrosis of marrow. Conclusion: This study depicts that incidence of JAK2 and CALR mutations in Indian PMF patients is fairly similar to that in rest of the world. CALR positive patients have better clinical parameters at presentation and have better prognosis as compared to JAK2 positive patients.http://journal.sajc.org/article.asp?issn=2278-330X;year=2019;volume=8;issue=3;spage=186;epage=188;aulast=PatilIndianmutationsmyelofibrosis |
| spellingShingle | Vinod R Patil S Chandrakala Shruti Mantri Rajesh Patil Nilesh Wasekar Farah Jijina Mutation profile in Indian primary myelofibrosis patients and its clinical implications South Asian Journal of Cancer Indian mutations myelofibrosis |
| title | Mutation profile in Indian primary myelofibrosis patients and its clinical implications |
| title_full | Mutation profile in Indian primary myelofibrosis patients and its clinical implications |
| title_fullStr | Mutation profile in Indian primary myelofibrosis patients and its clinical implications |
| title_full_unstemmed | Mutation profile in Indian primary myelofibrosis patients and its clinical implications |
| title_short | Mutation profile in Indian primary myelofibrosis patients and its clinical implications |
| title_sort | mutation profile in indian primary myelofibrosis patients and its clinical implications |
| topic | Indian mutations myelofibrosis |
| url | http://journal.sajc.org/article.asp?issn=2278-330X;year=2019;volume=8;issue=3;spage=186;epage=188;aulast=Patil |
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