ArticleFrontiers in oncology2026
Characterization of JAK2V617F and the JAK2 46/1 germline haplotype in myeloproliferative neoplasms in a Saudi Arabian cohort: a case-based analysis.
Article in Frontiers in oncology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: 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. Methods: 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. Results: 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%). Conclusions: 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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.