{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T05:03:07Z","timestamp":1789448587010,"version":"build-2803163510"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T00:00:00Z","timestamp":1789430400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002383","name":"King Saud University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002383","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>JAK2V617F is an important mutation associated with myeloproliferative neoplasms (MPNs). The germline JAK2 46\/1 haplotype is an established low-penetrance predisposition factor for MPNs across multiple ethnicities. This study aimed to characterize JAK2V617F mutation prevalence and JAK2 46\/1 haplotype distribution in a Saudi Arabian MPN cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective cohort study was conducted at King Fahad Medical City, Riyadh, Saudi Arabia. A total of 130 participants (98 MPN patients and 32 non-MPN controls) were enrolled between January 2018 and December 2019. JAK2V617F mutation status was determined by allele-specific TaqMan qPCR. SNPs rs12343867 and rs10974900 were genotyped using validated TaqMan SNP assays to define haplotype carrier status.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>JAK2V617F was detected in 13.1% of patients (n=17; 9 females, 8 males), with no statistically significant sex-based difference in mutation frequency. At rs12343867, the aggregate 46\/1 haplotype carrier frequency was 80.7% (homozygous TT: 51.5%; heterozygous CT: 29.2%). By MPN subtype, TT homozygosity was most prevalent in ET (56.3%). By MPN subtype, the CC genotype predominated in ET (57.8%), PV (50.0%), PMF (75.0%), and non-MPN controls (54.8%).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This is the first study to simultaneously characterize JAK2V617F and the germline JAK2 46\/1 haplotype in a Saudi Arabian MPN cohort. The elevated haplotype carrier frequency supports an inherited predisposition to MPN in this population and positions the JAK2 46\/1 haplotype as a candidate supplementary biomarker for risk stratification. Prospective, multi-centre studies incorporating comprehensive driver mutation profiling and population-matched healthy controls are warranted.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fonc.2026.1910710","type":"journal-article","created":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:28:05Z","timestamp":1789446485000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Characterization of JAK2V617F and the JAK2 46\/1 germline haplotype in myeloproliferative neoplasms in a Saudi Arabian cohort: a case-based analysis"],"prefix":"10.3389","volume":"16","author":[{"given":"Nouf","family":"Mutrib","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University","place":["Riyadh, Saudi 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