Trial reportBlood2010
The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.
Trial report in Blood, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
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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
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 100 citations in OpenAlex.
- Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2011Guideline
- Trial
- Homozygosity of germ lineBlood neoplasia · 2026Article
- Characterization of JAK2V617F and the JAK2 46/1 germline haplotype in myeloproliferative neoplasms in a Saudi Arabian cohort: a case-based analysis.Frontiers in oncology · 2026Article
- Evolution of myeloproliferative neoplasms from normal blood stem cells.Haematologica · 2025Review
- JAK2 mutational status and the contribution of TERT and JAK2 polymorphisms to the occurrence of myeloproliferative neoplasms in Eastern Morocco.African health sciences · 2024Article
- Review
- Article
- Clonal hematopoiesis of indeterminate potential and cardiovascular disease.Translational research : the journal of laboratory and clinical medicine · 2023Review
- The Contribution ofInternational journal of molecular sciences · 2022Review
- STAT 3 GOF with Polycythemia: a Twist to the Tale-First Case Report from India.Journal of clinical immunology · 2022Article
- A Broad Overview of Signaling inCancers · 2021Review
- A patient with a germline GATA2 mutation and primary myelofibrosis.Blood advances · 2021Article
- Advances in germline predisposition to acute leukaemias and myeloid neoplasms.Nature reviews. Cancer · 2021Review
- The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?International journal of molecular sciences · 2018Review
- Germline variations atOncotarget · 2017Article
- Molecular determinants of pathogenesis and clinical phenotype in myeloproliferative neoplasms.Haematologica · 2017Review
- Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.Journal of clinical laboratory analysis · 2016Article
- Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.Blood · 2016Article
- Prognosis of Primary Myelofibrosis in the Genomic Era.Clinical lymphoma, myeloma & leukemia · 2016Review
Corrections and comments
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Authors and funding
19 authors at 14 institutions in 5 countries.
Funding
Abstract
The 46/1 JAK2 haplotype predisposes to V617F-positive myeloproliferative neoplasms, but the underlying mechanism is obscure. We analyzed essential thrombocythemia patients entered into the PT-1 studies and, as expected, found that 46/1 was overrepresented in V617F-positive cases (n = 404) versus controls (n = 1492, P = 3.9 x 10(-11)). The 46/1 haplotype was also overrepresented in cases without V617F (n = 347, P = .009), with an excess seen for both MPL exon 10 mutated and V617F, MPL exon 10 nonmutated cases. Analysis of further MPL-positive, V617F-negative cases confirmed an excess of 46/1 (n = 176, P = .002), but no association between MPL mutations and MPL haplotype was seen. An excess of 46/1 was also seen in JAK2 exon 12 mutated cases (n = 69, P = .002), and these mutations preferentially arose on the 46/1 chromosome (P = .029). No association between 46/1 and clinical or laboratory features was seen in the PT-1 cohort either with or without V617F. The excess of 46/1 in JAK2 exon 12 cases is compatible with both the "hypermutability" and "fertile ground" hypotheses, but the excess in MPL-mutated cases argues against the former. No difference in sequence, splicing, or expression of JAK2 was found on 46/1 compared with other haplotypes, suggesting that any functional difference of JAK2 on 46/1, if it exists, must be relatively subtle.
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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.