{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:30:12Z","timestamp":1787841012974,"version":"build-2784847793"},"reference-count":29,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T00:00:00Z","timestamp":1711324800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,10]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background:<\/jats:title>\n \n Recurrent somatic mutations in the\n JAK2<\/jats:italic>\n ,\n CALR<\/jats:italic>\n , and the\n MPL<\/jats:italic>\n genes are noted in\n BCR:ABL1<\/jats:italic>\n negative classic myeloproliferative neoplasms (MPN) that includes polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (PMF).\n <\/jats:p>\n <\/jats:sec>\n \n Materials and Methods:<\/jats:title>\n \n Mutation profile and clinical features of MPN cases diagnosed at a tertiary care center in North India are being described.\n JAK2V617F<\/jats:italic>\n mutation was screened using ARMS PCR, and\n CALR<\/jats:italic>\n mutation was screened using allele-specific PCR followed by fragment analysis.\n MPL<\/jats:italic>\n and\n JAK2 Exon 12<\/jats:italic>\n mutations were screened by Sanger sequencing. Some of the samples were also screened using commercial kits based on single-plex RT PCR.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n A total of 378 cases (including 124 PV, 121 ET, and 133 PMF cases) were screened over 6.5 years.\n JAK2V617F<\/jats:italic>\n mutation was noted in 90.3%, 61.1%, and 69.2% of cases of PV, ET, and PMF, respectively. In PV,\n JAK2V617F<\/jats:italic>\n wild-type cases were associated with a significantly lower age (44 yrs vs 54 yrs;\n P<\/jats:italic>\n = 0.001), lower TLC (6.3 vs 16.9;\n P<\/jats:italic>\n = 0.001), and a lower platelet count (188 \u00d7 109\/L vs 435 \u00d7 109\/L;\n P<\/jats:italic>\n = 0.009) as compared to the\n JAK2V617F<\/jats:italic>\n mutated cases.\n CALR<\/jats:italic>\n and\n MPL<\/jats:italic>\n mutations were noted in 17.4% and 12% and 0.8% and 5.3% of ET and PMF cases, respectively. Type 1\n CALR<\/jats:italic>\n mutations were commoner in both ET and PMF. The triple negative cases constituted 20.7% and 13.5% cases of ET and PMF, respectively. In ET, the triple negative cases were found to have a significantly lower median age of presentation (42 yrs vs 52 yrs;\n P<\/jats:italic>\n = 0.001), lower median TLC (10.2 \u00d7 109\/L vs 13.2 \u00d7 109\/L;\n P<\/jats:italic>\n = 0.024), and a higher median platelet count (1238 \u00d7 109\/L vs 906 \u00d7 109\/L;\n P<\/jats:italic>\n = 0.001) as compared to driver genes mutated cases. In PMF, the triple negative cases were found to have a significantly lower hemoglobin level (7.9 g\/dl vs 11.0 gl\/dl;\n P<\/jats:italic>\n = 0.001) and a significant female preponderance (\n P<\/jats:italic>\n = 0.05) as compared to the mutated cases.\n CALR<\/jats:italic>\n mutations were found to have a significantly lower median age (43 yrs vs 56 yrs;\n P<\/jats:italic>\n = 0.001) and lower hemoglobin (9.6 g\/dl vs 11.3 g\/dl) as compared to the\n JAK2<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n Our data on the driver gene mutational profile of\n BCR:ABL1<\/jats:italic>\n negative MPN is one of the largest patient cohorts. The prevalence and clinicopathological features corroborate with that of other Asian studies.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/ijpm.ijpm_743_23","type":"journal-article","created":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T13:21:55Z","timestamp":1724937715000},"page":"739-746","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Prevalence and clinicopathological features of driver gene mutations profile in BCR:ABL1 negative classical myeloproliferative neoplasm\u2014A single-center study from North India"],"prefix":"10.4103","volume":"67","author":[{"given":"Khaliqur","family":"Rahman","sequence":"first","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seema","family":"Biswas","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akhilesh","family":"Sharma","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kusum","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinesh","family":"Chandra","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish K.","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruchi","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Mishra","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeev","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anshul","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faheema","family":"Hasan","sequence":"additional","affiliation":[{"name":"Department of Hematology, SGPGI, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soniya","family":"Nityanand","sequence":"additional","affiliation":[{"name":"Department of Hematology, 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