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Artículos de revistas sobre el tema "JAK2 46"

Autor: Grafiati
Publicado: 10 de marzo de 2023
Última modificación: 31 de julio de 2025

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1

Xu, Lichao, Ding Zhang, Guoqiang Wang, et al. "Correlation between JAK1/2 expression and immune-related genes and JAK2 gene variants: A pan-cancer analysis." Journal of Clinical Oncology 38, no. 15_suppl (2020): e15057-e15057. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e15057.

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e15057 Background: Loss of function mutations for Janus kinases 1/2 (JAK1/2) have shown to be the underling mechanism of primary resistance to immune checkpoint inhibitors (ICIs). However, the correlation between JAK1/2 expression and immune-related genes have not been studied. Methods: Survival, mRNA expression and whole-exome sequencing data from 32 pan-cancer atlas studies were obtained from The Cancer Genome Atlas (TCGA). Correlations between JAK1/2 expression and immune-related genes were depicted in heatmaps. We also analyzed the association between JAK2 gene variants and JAK2 expression
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2

Pacilli, Annalisa, Paola Guglielmelli, Tiziana Fanelli, et al. "JAK2V617F Clonal Architecture in MPNs during JAK2 Inhibitor Treatment." Blood 126, no. 23 (2015): 1630. http://dx.doi.org/10.1182/blood.v126.23.1630.1630.

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Abstract Introduction The Myeloproliferative Neoplasms (MPNs) are characterized by a recurrent point mutation of JAK2 gene (JAK2 V617F). This mutation, which usually affects only one of the JAK2 gene alleles in Essential Thrombocythemia (ET), frequently becomes homozygous in Polycythemia Vera (PV) and Myelofibrosis (MF) due to homologous mitotic recombination. A JAK2 V617F-mutated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1(GGCC), (Nat Genet 2009; 41:446) with complete linkage disequilibrium although the risk of developing MPNs is independent o
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3

Cross, Nicholas C. P., Peter Campbell, Philip A. Beer, et al. "The JAK2 46/1 Haplotype Predisposes to Myeloproliferative Neoplasms Characterized by Diverse Mutations." Blood 114, no. 22 (2009): 433. http://dx.doi.org/10.1182/blood.v114.22.433.433.

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Abstract Abstract 433 A common constitutional JAK2 haplotype termed 46/1 (also known as GGCC) predisposes to V617F JAK2-positive myeloproliferative neoplasms (MPN) but the underlying mechanism is obscure. Two hypotheses have been postulated: (i) ‘hypermutability' of JAK2 on 46/1 compared to other haplotypes and (ii) a functional difference of JAK2 on 46/1 that positively interacts with V617F and thus provides ‘fertile ground' for development of an MPN. To investigate these possibilities we analyzed patients with essential thrombocythemia entered into the PT-1 studies. As expected, 46/1 was hig
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4

Vilaine, Mathias, Damla Olcaydu, Ashot Harutyunyan, et al. "Homologous Recombination of Wild TYPE JAK2, A NOVEL EARLY STEP In the DEVELOPMENT of Myeloproliferative Neoplasm." Blood 118, no. 21 (2011): 2805. http://dx.doi.org/10.1182/blood.v118.21.2805.2805.

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Abstract Abstract 2805 Background: Adequate expression and function of Jak2 in hematopoietic progenitors is critical for normal myelopoiesis. The JAK2 46/1 (GGCC) haplotype, a congenital particularity, predisposes to myeloproliferative neoplasm (MPN) both independently and through mutation of the JAK2 gene. The JAK2 V617F mutation and acquired homozygous status for JAK2 V617F are frequent in MPN. JAK2 V617F homozygosity is currently explained acquisition of the JAK2 V617F mutation followed by mitotic homologous recombination (HR) of JAK2 occurred between wild-type and mutant alleles, leading t
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5

Jones, Amy V., Peter J. Campbell, Philip A. Beer, et al. "The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms." Blood 115, no. 22 (2010): 4517–23. http://dx.doi.org/10.1182/blood-2009-08-236448.

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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 × 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
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6

Olkhovskiy, I. А., M. A. Stolyar, Yu Yu Komarovskiy, et al. "Study of the Janus kinase 2 (JAK2) gene haplotype 46/1 association with driver mutations of chronic Ph-negative myeloproliferative neoplasms." Russian journal of hematology and transfusiology 67, no. 3 (2022): 377–87. http://dx.doi.org/10.35754/0234-5730-2022-67-3-377-387.

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Introduction. Haplotype JAK2 46/1 is associated with more frequent development of Ph-negative myeloproliferative neoplasms (MPN) and with an increased detection rate of the JAK2 V617F mutation. At the same time, the molecular mechanisms of such associations remain unclear. Previously, there were no studies of regional, age and gender aspects of the predictive value of carriage of the 46/1 JAK2 haplotype, which could assess this relationship in some observations.Aim — to analyze the degree of association between 46/1 haplotype and the V617F mutation of the JAK2 gene depending on the sex, age, a
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7

Al-Ammari, Maged, Abdul Ali Peer Zada, Ibraheem H. Motabi, et al. "JAK2 GGCC (46/1) Haplotype in Unprovoked Venous Thrombotic Events." Blood 138, Supplement 1 (2021): 4258. http://dx.doi.org/10.1182/blood-2021-149560.

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Abstract Background: JAK2 GGCC 46/1 haplotype can be represented by four main SNPs (rs3780367, rs10974944, rs12343867, and rs1159782) which replace one cytosine and three thymidines by two guanosines and two cytosines, generating a "GGCC" combination. These four SNPs located on JAK2 introns 10, 12, 14, and 15, respectively, and are always inherited together, being in complete linkage disequilibrium. The 46/1 component of the name came from Jones et al. study where the haplotype structure of the JAK2 gene was mapped using 14 SNPs genotyped by the Wellcome Trust Case Control Consortium (WTCCC) i
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8

Smalberg, Jasper, Edith Koehler, Sarwa Darwish Murad, et al. "JAK2 Germline Genetic Variation In Budd-Chiari Syndrome and Portal Vein Thrombosis." Blood 116, no. 21 (2010): 4212. http://dx.doi.org/10.1182/blood.v116.21.4212.4212.

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Abstract Abstract 4212 Primary Budd-Chiari syndrome (BCS) and non-malignant, non-cirrhotic portal vein thrombosis (PVT) are rare disorders with a considerable overlap in etiology. Myeloproliferative neoplasms (MPN) are the most frequent underlying prothrombotic factor in both entities. The JAK2 V617F mutation (VF) has been identified in over half of the individuals with MPN. Recently, a JAK2 haplotype, designated ‘46/1’, has been described. Previous studies suggest that the JAK2 46/1 haplotype represents a disease susceptibility to MPN, independent of VF status. The aim of this study was to de
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9

Tefferi, Ayalew, Terra L. Lasho, Christy Finke, et al. "The Germline JAK2 GGCC (46/1) Haplotype and Survival Among 414 Molecularly-Annotated Patients with Primary Myelofibrosis." Blood 132, Supplement 1 (2018): 1761. http://dx.doi.org/10.1182/blood-2018-99-110046.

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Abstract Background: We have long introduced the concept of host genetic variations in the phenotypic diversity of myeloproliferative neoplasms (MPN) (Blood 2008;111:2785). Previous studies have established an association between JAK2 mutations in myeloproliferative neoplasms (MPN) and the germline GGCC (46/1) haplotype, which constitutes a string of single nucleotide polymorphisms (SNPs) near the JAK2 gene that are inherited together on chromosome 9p (reviewed recently;Int J Mol Sci. 2018; 19: 1152). In 2010, we reported an association between shortened survival in primary myelofibrosis (PMF)
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10

Yahya Belmokhtar, Karam, Mounia Elidrissi Errahhali, Saida Lhousni, et al. "JAK2 mutational status and the contribution of TERT and JAK2 polymorphisms to the occurrence of myeloproliferative neoplasms in Eastern Morocco." African Health Sciences 24, no. 3 (2024): 138–46. http://dx.doi.org/10.4314/ahs.v24i3.18.

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Background: The JAK2 V617F somatic mutation is a hallmark of myeloproliferative neoplasms (MPN) and is present in some patients with splanchnic venous thrombosis (SVT). Objectives: We investigated for the first time in Eastern Morocco the JAK2 mutational status and germline risk factors, such as the TERT and JAK2 polymorphisms, in MPN and SVT patients. Methods: This study included 38 patients with MPN, 24 patients presenting with SVT and 60 healthy donors from the BRO Biobank. JAK2 mutations were analyzed using qPCR and Sanger sequencing. Predisposing polymorphisms to MPN were evaluated using
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11

Perrone, Michela, Sara Sergio, Amalia Tarantino, et al. "Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation." Onco 4, no. 3 (2024): 241–56. http://dx.doi.org/10.3390/onco4030018.

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Background: JAK2 V617F is a somatic mutation associated with myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). In MPNs, this mutation is associated with the germline GGCC (46/1) haplotype. Several studies associated JAK2 haplotype GGCC_46/1 with some MPNs clinical parameters, but not one explore the link between JAK2 haplotype GGCC_46/1 and onco-drug resistance. Thus, we assessed for the JAK2 46/1 haplotype’s correlation with therapy response in JAK2 V617F-positive patients. Methods: Patients with MPN, selecte
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12

Cross, Nicholas C. P., Amy V. Jones, Richard T. Silver, et al. "Development of V617F JAK2 Associated Myeloproliferative Neoplasms Is a Non-Random Event That Is Strongly Dependent on JAK2 Haplotype." Blood 112, no. 11 (2008): 173. http://dx.doi.org/10.1182/blood.v112.11.173.173.

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Abstract Epidemiological data and family studies have indicated that inherited factors may predispose to the development of myeloproliferative neoplasms (MPN). It has also been suggested that single nucleotide polymorphisms (SNPs) within JAK2 are associated with specific MPN subtypes. To explore the role of inherited factors in more detail, we initially performed quantitative analysis of a series of JAK2 SNPs in homozygous PV cases (%V617F >50%; n=73). Most mutant haplotypes could be read directly from the distorted allele ratios brought about by expansion of the homozygous clone. In ma
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13

Panovska, Irina, Nadica Matevska, Martin Ivanovski, et al. "Frequency and Clinical Correlates of JAK2 46/1 Haplotype in Comparison with JAK2V617F Variant in Myeloproliferative Neoplasms: Single Center Experience." Blood 118, no. 21 (2011): 5173. http://dx.doi.org/10.1182/blood.v118.21.5173.5173.

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Abstract Abstract 5173 It is predicted that the inherited genetic background in the individual patients with myeloproliferative neoplasm (MPN) influences the disease susceptibility and the phenotype expression of the MPN. Recently, several groups suggested that JAK2V617F positive MPN are acquired preferentially on a specific constitutional germline JAK2 46/1 haplotype which is tagged by the “C” allele of single nucleotide polymorphism (SNP) rs12343867 (C/T), and designate the genetic basis for predisposition to MPN. They try to explain the pathomechanism for the acquisition of V617F mutation t
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14

Macedo, L. C., B. C. Santos, S. Pagliarini-e-Silva, et al. "JAK2 46/1 haplotype is associated with JAK2 V617F - positive myeloproliferative neoplasms in Brazilian patients." International Journal of Laboratory Hematology 37, no. 5 (2015): 654–60. http://dx.doi.org/10.1111/ijlh.12380.

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15

Tanaka, Mayumi, Toshiaki Yujiri, Shunsuke Ito, et al. "JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients." International Journal of Hematology 97, no. 3 (2013): 409–13. http://dx.doi.org/10.1007/s12185-013-1295-y.

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16

Kouroupi, Eirini, Jean-Jacques Kiladjian, Christine Chomienne, et al. "The JAK2 46/1 haplotype in splanchnic vein thrombosis." Blood 117, no. 21 (2011): 5777–78. http://dx.doi.org/10.1182/blood-2011-03-343657.

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17

van der Werf, Inge, and Catriona H. M. Jamieson. "3D insights: JAK2 46/1 haplotype shapes MPN development." Blood 145, no. 19 (2025): 2112–14. https://doi.org/10.1182/blood.2025028547.

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18

Weiler, SR, S. Mou, CS DeBerry, et al. "JAK2 is associated with the c-kit proto-oncogene product and is phosphorylated in response to stem cell factor." Blood 87, no. 9 (1996): 3688–93. http://dx.doi.org/10.1182/blood.v87.9.3688.bloodjournal8793688.

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Stem cell factor (SCF) is a hematopoietic growth factor that interacts with the receptor tyrosine kinase, c-kit. We have found that SCF- stimulates rapid and transient tyrosine phosphorylation of JAK2 in human and murine cell lines, as well as in normal human progenitor cells. JAK2 and c-kit were associated in unstimulated cells with further recruitment of JAK2 to the c-kit receptor complex after SCF stimulation. Treatment of cells with JAK2 antisense oligonucleotides resulted in a 46% decrease in SCF-induced proliferation. These data demonstrate that SCF induces tyrosine phosphorylation of JA
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19

Cleyrat, Cédric, Jaroslav Jelinek, François Girodon, et al. "Polycythemia Vera with Multiple Clones Carrying Different Mutations (L611V, V617F, L611V/V617F) in Exon 14 of JAK2." Blood 114, no. 22 (2009): 3908. http://dx.doi.org/10.1182/blood.v114.22.3908.3908.

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Abstract Abstract 3908 Poster Board III-844 Background In more than 95% of cases, Polycythemia vera (PV) is characterized by the presence of the V617F mutation of JAK2 (JAK2-V617F). We report on three cases of V617F-positive PV with an additional mutation of JAK2 changing leucine 611 for a valine (L611V). Design and Methods We used allele-specific quantitative PCRs and pyro-sequencing to detect the L611V and V617F JAK2 mutants in genomic DNA and in cloned PCR products. The consequences of the different mutations on the function of JAK2 were investigated using transient expression in BaF-3/EpoR
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20

Angona, Anna, Beatriz Bellosillo, Alberto Alvarez-Larrán, et al. "Genetic Predisposition to Molecular Response in Patients with Myeloproliferative Neoplasms Treated with Hydroxycarbamide." Blood 120, no. 21 (2012): 1738. http://dx.doi.org/10.1182/blood.v120.21.1738.1738.

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Abstract Abstract 1738 Introduction: Hydroxycarbamide (HC) is an antimetabolite used as first-line therapy in high risk essential thrombocythemia (ET) and polycythemia vera (PV). In treatment-naive patients, HC achieves complete hematological and partial molecular response in 80% and 50% of patients, respectively. Genetic factors involved in the pharmacokinetics of HC, as well as in the acquisition of the JAK2V617F mutation, could play a role in the variability among these patients in achieving a molecular response. Objective: To assess the influence of 46/1 JAK2 haplotype and urea transporter
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21

Hasan, Salma, Jean Pierre Le Couedic, Fabrizia Favale, et al. "46/1 Haplotype Permits to Follow JAK2 Homologous Recombination: Modeling JAK2V617F clonal Architecture in PV Patients." Blood 120, no. 21 (2012): 1757. http://dx.doi.org/10.1182/blood.v120.21.1757.1757.

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Abstract Abstract 1757 Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell (HSC) disorders characterized by excess proliferation of one or several myeloid lineages. More than 95% polycythemia vera (PV) and 50–60% essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients harbor a somatic 1849 G>T mutation in JAK2 gene. Moreover about 30% of PV patients are homozygous for this mutation due to a loss of heterozygosity after a mitotic homologous recombination (HR). Among 92 haplotypes of chromosome 9p, 46/1 haplotype is strongly associated with the cis-aquisitio
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22

Liang, Der-Cherng, Lee-Yung Shih, Chein-Fuang Huang та ін. "Different Cooperating Mutation Patterns of Receptor Tyrosine Kinases/Ras/JAK2 between De Novo AML1-ETO and CBFβ-MYH11 Acute Myeloid Leukemia." Blood 110, № 11 (2007): 3487. http://dx.doi.org/10.1182/blood.v110.11.3487.3487.

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Abstract Background. Two-hit model of leukemogenesis has been proposed for AML; class I mutations that drive proliferation and survival, and class II mutations that block differentiation. Core-binding factor (CBF) AML consists of AML with AML1-ETO and AML with CBFβ-MYH11, that are class II mutations. Aim. We sought to determine the frequencies of cooperating mutations of class I including receptor tyrosine kinases (RTK)/Ras/JAK2 signaling pathways in CBF-AML, and to compare the patterns of cooperating mutations between AML with AML1-ETO and AML with CBFβ-MYH11. Patients and methods. By RT-PCR
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23

Stolyar, M. A., O. A. Klimova, A. S. Gorbenko, et al. "JAK2 haplotype 46/1 and JAK2 V617F allele burden in MPN: New evidence against the “hypermutability” hypothesis?" International Journal of Laboratory Hematology 40, no. 1 (2017): e8-e10. http://dx.doi.org/10.1111/ijlh.12765.

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24

Gorre, M., I. Jilani, H. Kantarjian, F. Giles, A. Hannah, and M. Albitar. "Novel Quantitative Flow Cytometry-Based Signaling Assays Reveal a Potential Role for HSP90 Inhibitors in the Treatment of JAK2 Mutant-Positive Diseases." Blood 106, no. 11 (2005): 3526. http://dx.doi.org/10.1182/blood.v106.11.3526.3526.

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Abstract The V617F mutation in the JAK2 tyrosine kinase, recently described in a majority of patients with myeloproliferative disorders (MPDs), confers growth factor independence in vitro and oncogenicity in mice. Therefore, targeted inhibition of mutant JAK2 kinase activity may be an effective strategy for treatment of MPD patients with this mutation. The ability to measure the activation status of JAK2 in patient samples will thus be of substantial value for monitoring therapeutic efficacy. We have developed quantitative flow cytometry-based assays for rapid and reproducible measurement of i
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Mahmood, Shameem, Louise Mellish, Nicholas Lea, et al. "The JAK2 46/1 Haplotype Analysis In Essential Thrombocythaemia and Polycythaemia Rubra Vera Reveals That CC Genotype Is Associated with a Higher JAK2V617F and c-MPL W515 Allele Burden." Blood 116, no. 21 (2010): 1977. http://dx.doi.org/10.1182/blood.v116.21.1977.1977.

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Abstract Abstract 1977 First 2 authors contributed equally. Background: Genomic-wide association studies have identified the germline 46/1 haplotype as a predisposing allele associated with JAK2V617F positive myeloproliferative neoplasms (MPN). The present study analysed data on 856 JAK2V617F positive patients, 326 of which had complete clinical data. Aims: To evaluate the JAK2 46/1 haplotype frequencies, JAK2V617F allele burden, c-MPL 515 mutation and risk of transformation. Methods: Genomic DNA from whole peripheral blood or bone marrow patient samples was analysed as follows: JAK2V617F alle
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26

Smalberg, Jasper H., Edith Koehler, Sarwa Darwish Murad, et al. "The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis." Blood 117, no. 15 (2011): 3968–73. http://dx.doi.org/10.1182/blood-2010-11-319087.

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Abstract The germline JAK2 46/1 haplotype has been associated with the development of JAK2V617F-positive as well as JAK2V617F-negative myeloproliferative neoplasms (MPNs). In this study we examined the role of the 46/1 haplotype in the etiology and clinical presentation of patients with splanchnic vein thrombosis (SVT), in which MPNs are the most prominent underlying etiological factor. The single-nucleotide polymorphism rs12343867, which tags 46/1, was genotyped in 199 SVT patients. The 46/1 haplotype was overrepresented in JAK2V617F-positive SVT patients compared with controls (P < .01).
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27

Trifa, Adrian P., Andrei Cucuianu, Ljubomir Petrov, et al. "The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms." Annals of Hematology 89, no. 10 (2010): 979–83. http://dx.doi.org/10.1007/s00277-010-0960-y.

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28

Bellanne-Chantelot, Christine, Myriam Labopin, Isabelle Chaumarel, et al. "Heterogeneous Distribution of the JAK2 Val617Phe Activating Mutation in Familial Myeloproliferative Disorders." Blood 106, no. 11 (2005): 115. http://dx.doi.org/10.1182/blood.v106.11.115.115.

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Abstract An activating mutation Val617Phe of the tyrosine kinase JAK2 has recently been reported by several groups in the majority of patients with polycythemia vera (PV) and approximately half of those with either essential thrombocythemia (ET) or myelofibrosis with myeloid metaplasia (MMM). These haematological malignancies characterized by a stem cell-derived clonal proliferation of myeloid cells are traditionally subgrouped as myeloproliferative disorders (MPD). Until now, the JAK2 mutation has been described in sporadic cases of MPD but the prevalence of this mutation in familial MPD is u
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29

Kouroupi, Eirini G., Bruno Cassinat, Aurelie Plessier, et al. "Lack of Association Between the 46/1 JAK2 Haplotype and the Presence of JAK2V617F Mutation In Splanchnic Vein Thrombosis Patients." Blood 116, no. 21 (2010): 4120. http://dx.doi.org/10.1182/blood.v116.21.4120.4120.

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Abstract Abstract 4120 Aim: The majority of myeloproliferative neoplasms (MPN), i.e. Polycythemia vera (PV), Essential Thrombocytemia (ET) and Primary Myelofibrosis, are characterized by the presence of the acquired JAK2V617F gene mutation. Recent studies revealed that the 46/1 or “GGCC” haplotype located in the JAK2 gene is strongly associated with the development of a JAK2V617F positive MPN. However, this particular haplotype was also detected in excess in JAK2V617F negative MPN carrying mutations across JAK2 exon 12 or the MPL gene, suggesting that this germline genetic variation increases
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30

Ahn, Jeong Yeal, Pil Whan Park, Yiel Hea Seo, et al. "JAK2 V617F Mutation in Essential Thrombocythemia." Blood 108, no. 11 (2006): 4925. http://dx.doi.org/10.1182/blood.v108.11.4925.4925.

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Abstract Background: Essential thrombocythemia (ET) is thought to reflect transformation of a multipotent hematopoietic stem cell, but its molecular pathogenesis has remained obscure. But tyrosine kinase, especially Janus kinase 2 (JAK2) has been implicated in myeloproliferative disorders other than chronic myeloid leukemia. We investigated the incidence and its correlation with other clinicopathologic variables of JAK2 mutation in patients with ET and reactive thrombocytosis (RT). Method: JAK2 mutation analysis, using allele-specific polymerase chain reaction, was undertaken on genomic DNA fr
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31

Vanjari, Neelam, Guilin Tang, Gokce A. Toruner, et al. "Optical Genome Mapping Helps to Identify BCR::JAK2 Rearrangement Arising from Cryptic Complex Chromosomal Aberrations: A Case Report and Literature Review." Genes 14, no. 12 (2023): 2188. http://dx.doi.org/10.3390/genes14122188.

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We report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with BCR::JAK2 rearrangement. Chromosomal analysis indicated a simple abnormal karyotype 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2). Fluorescence in situ hybridization (FISH) using a BCR/ABL1/ASS1 probe set suggested a possible BCR rearrangement and a reflex JAK2 breakapart probe indicated JAK2 rearrangement, most likely partnered with BCR. Optical genome mapping (OGM) analysis confirmed BCR::JAK2 derived through an inv(9)(p24p13) after a t(9;22)(p13;q11.2) in this case. Due to the complexity of c
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32

Hasan, Salma, Bruno Cassinat, Jean-Pierre Le Couédic та ін. "Use Of 46/1 Haplotype Permits To Follow JAK2V617F Clonal Architecture In PV Patients: Clonal Evolution and Impact Of IFNα Treatment". Blood 122, № 21 (2013): 4109. http://dx.doi.org/10.1182/blood.v122.21.4109.4109.

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Abstract Somatic V617F oncogenic mutation of the protein kinase JAK2 is the most prevalent genetic abnormality in the three myeloproliferative neoplasms (MPNs), namely polycythemia vera (PV, 95%), essential thrombocythemia (ET, 55%) and myelofibrosis (MF, 50%). About 30% of PV patients are homozygous for this mutation due to mitotic homologous recombination (HR). JAK2 46/1 haplotype is strongly associated with the cis-aquisition of JAK2V617F mutation. Since, HR involves most of 46/1 haplotype, JAK2V617F and 46/1 tagging SNPs are also reduced to homozygosity. We hypothesized that 46/1 tagging S
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33

Lea, Nicholas C., Lara N. Roberts, Raj K. Patel, et al. "Prevalence of 46/1 JAK2 Haplotype in Patients with Budd-Chiari Syndrome with and without JAK2V617F and TET2 Mutations." Blood 114, no. 22 (2009): 434. http://dx.doi.org/10.1182/blood.v114.22.434.434.

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Abstract Abstract 434 Budd-Chiari Syndrome (BCS) is a group of disorders resulting from obstruction to hepatic venous outflow; myeloproliferative disorder (MPD) accounts for 10-40% of cases. We previously described latent MPD in 58.5% of patients with idiopathic BCS, detected with allele-specific PCR for the JAK2V617F mutation and proposed its use as a screening tool for occult MPD. A predisposing germline JAK2 haplotype (designated 46/1) has since been described as a strong genetic risk factor for MPD and may further characterise latent MPD in BCS. We studied 28 patients with BCS (23 from our
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34

Ma, Wanlong, Hagop Kantarjian, XI Zhang, et al. "Splice Variant JAK2 Transcript Deleting Exon 14 in Patients with Chronic Myeloproliferative Neoplasms." Blood 114, no. 22 (2009): 2161. http://dx.doi.org/10.1182/blood.v114.22.2161.2161.

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Abstract Abstract 2161 Poster Board II-138 The JAK2 V617F mutation in exon 14 is the most common mutation in chronic myeloproliferative neoplasms (MPNs). While other point mutations and small deletions and insertions in exons 12, 13, and 14 have been reported in the JAK2 JH2 domain, deletion of the entire exon 14 is rarely detected in patients with MPNs. In a series of >10,000 samples from patients with suspected MPNs tested for JAK2 mutations by direct sequencing of mRNA, we detected a complete exon 14 (88 bp) deletion mutation in <1% of those with JAK2 mutation. This appears to be an a
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35

Campiotti, Leonardo, Lorenzo Elli, Matteo B. Suter, Luigina Guasti, and Francesco Pallotti. "JAK2, 46/1 haplotype and chronic myelogenous leukemia: diagnostic and therapeutic potential." Clinical Chemistry and Laboratory Medicine (CCLM) 58, no. 1 (2019): e24-e26. http://dx.doi.org/10.1515/cclm-2019-0158.

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36

Andrikovics, H., S. Nahajevszky, M. Koszarska, et al. "JAK2 46/1 haplotype analysis in myeloproliferative neoplasms and acute myeloid leukemia." Leukemia 24, no. 10 (2010): 1809–13. http://dx.doi.org/10.1038/leu.2010.172.

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37

Abdel-Wahab, Omar, Taghi Manshouri, Jay Patel, et al. "TET2 and ASXL1 Mutations in Leukemic Transformation of Chronic Myeloproliferative Neoplasms." Blood 114, no. 22 (2009): 2894. http://dx.doi.org/10.1182/blood.v114.22.2894.2894.

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Abstract Abstract 2894 Poster Board II-870 Recent studies have identified TET2 and ASXL1 mutations in myeloid malignancies, suggesting that acquisition of these mutant alleles might precede the acquisition of JAK2 in some myeloproliferative neoplasm (MPN) patients. Moreover, the observation that JAK2 mutations are observed in minority of patients with leukemic transformation of JAK2-mutant MPNs suggests the possibility that JAK2 mutations are dispensable for leukemic transformation. However the role of TET2 and ASXL1 mutations in leukemic transformation has not been evaluated. We therefore inv
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38

Lamy, Matthias, Paola Palazzo, Pierre Agius, et al. "Should We Screen for Janus Kinase 2 V617F Mutation in Cerebral Venous Thrombosis?" Cerebrovascular Diseases 44, no. 3-4 (2017): 97–104. http://dx.doi.org/10.1159/000471891.

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Background: The presence of Janus Kinase 2 (JAK2) V617F mutation represents a major diagnostic criterion for detecting myeloproliferative neoplasms (MPN) and even in the absence of overt MPN, JAK2 V617F mutation is associated with splanchnic vein thrombosis. However, the actual prevalence and diagnostic value of the JAK2 V617F mutation in patients with cerebral venous thrombosis (CVT) are not known. The aims of this study were to assess the prevalence of JAK2 V617F mutation in a large group of consecutive CVT patients, to detect clinical, biological, and radiological features associated with t
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39

Gugliotta, Luigi, Alessandra Iurlo, Gabriele Gugliotta, et al. "Clinical and Biological Features in Patients with Ph-Negative Chronic Myeloproliferative Neoplasm Showing Different Molecular Pattern. Comparative Study in 596 Patients of the Registro Italiano Trombocitemie (RIT)." Blood 126, no. 23 (2015): 4071. http://dx.doi.org/10.1182/blood.v126.23.4071.4071.

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Abstract Background. In patients with Ph-negative chronic myeloproliferative neoplasm (MPN) the molecular pattern, beside other characteristics at diagnosis, has been related to the disease prognosis. Aim. To compare clinical and biological features at diagnosis and during the follow-up in gender/age-matched MPN patients showing different molecular pattern. Material and methods. The Registro Italiano Trombocitemie (RIT) is a web-based registry that includes thrombocythemic MPN patients diagnosed according to PVSG or WHO criteria, registered after 2005, and then prospectically followed. The JAK
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40

Paes, Jhemerson, George A. V. Silva, Andréa M. Tarragô, and Lucivana P. de Souza Mourão. "The Contribution of JAK2 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms." International Journal of Molecular Sciences 23, no. 20 (2022): 12582. http://dx.doi.org/10.3390/ijms232012582.

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Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.1, which extend from the Janus Kinase 2 gene to Insulin like 4. Marked by four jointly inherited variants (rs3780367, rs10974944, rs12343867, and rs1159782), this haplotype has a strong association with the development of BCR-ABL1-negative myeloproliferative neoplasms (MPNs) because it precedes the acquisition of the JAK2V617F variant, a common genetic alteration in individuals with these hematological malignancies. It is also described as one of the factors that increases the risk of familial MPNs
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41

Vaziri-Amjad, Samaneh, Reza Rahgosha, and Amir Taherkhani. "Potential JAK2 Inhibitors from Selected Natural Compounds: A Promising Approach for Complementary Therapy in Cancer Patients." Evidence-Based Complementary and Alternative Medicine 2024 (April 26, 2024): 1–20. http://dx.doi.org/10.1155/2024/1114928.

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Background. Janus-activated kinase 2 (JAK2) plays a pivotal role in numerous essential biological processes, including proliferation, apoptosis, and metastasis in human cells. Prior studies have indicated that inhibiting JAK2 could be a promising strategy to mitigate cell proliferation and induce apoptosis in tumor cells. Objectives. This study aimed to estimate the binding affinity of 79 herbal compounds, comprising 46 flavonoids, 21 anthraquinones, and 12 cinnamic acids, to the ATP-binding cleft of JAK2 to identify potential herbal inhibitors of JAK2. Methods. The binding affinities between
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42

Tu, Lingrong, Xiudi Yang, Xiaoqiong Zhu, Ying Lu, Honglan Qian, and Jian Huang. "Comparing the Clinical and Genetic Features By Next-Generation Sequencing and RNA Sequencing of Polycythemia Vera and Post-Polycythemia Vera Myelofibrosis Patients." Blood 144, Supplement 1 (2024): 6637. https://doi.org/10.1182/blood-2024-205374.

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Among 887 PV and post-PV MF patients in Zhejiang, China, 701 (79.9%) harbored JAK2V617F mutation, 11 (1.2%) JAK2 Exon 12 mutation alone; and 165 (18.8%) were JAK2 negative with reduced Epo levels. Univariate analysis revealed that physical symptoms (P=0.003; HR 2.48, 95% CI 1.36-4.54), splenomegaly (P<0.001; HR 5.15, 95% CI 2.50-10.61), WBC>=11*10^9/L (P=0.033; HR 1.85, 95% CI 1.05-3.27) and LDH(ROC,>287U/L) (P=0.006; HR 5.08, 95% CI 1.58-16.33) were risk factors for progression post-PV MF. Multivariable analysis revealed that physical symptoms (P<0.001; HR 3.50, 95
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43

Wang, Hui, Guixiang Sun, Peijin Zhang, et al. "JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients." Journal of Gastroenterology and Hepatology 29, no. 1 (2013): 208–14. http://dx.doi.org/10.1111/jgh.12379.

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44

Zerjavic, Katja, Boris Zagradisnik, Lidija Lokar, Marjana G. Krasevac, and Nadja K. Vokac. "The association of the JAK2 46/1 haplotype with non-splanchnic venous thrombosis." Thrombosis Research 132, no. 2 (2013): e86-e93. http://dx.doi.org/10.1016/j.thromres.2013.06.021.

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45

Soler, G., A. Bernal-Vicente, A. I. Antón, et al. "The JAK2 46/1 haplotype does not predispose to CALR-mutated myeloproliferative neoplasms." Annals of Hematology 94, no. 5 (2014): 789–94. http://dx.doi.org/10.1007/s00277-014-2266-y.

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46

Guglielmelli, P., F. Biamonte, A. Spolverini, et al. "Frequency and clinical correlates of JAK2 46/1 (GGCC) haplotype in primary myelofibrosis." Leukemia 24, no. 8 (2010): 1533–37. http://dx.doi.org/10.1038/leu.2010.126.

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47

Vannucchi, Alessandro M., and Paola Guglielmelli. "The JAK2 46/1 (GGCC ) MPN-predisposing haplotype: A risky haplotype, after all." American Journal of Hematology 94, no. 3 (2018): 283–85. http://dx.doi.org/10.1002/ajh.25367.

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48

Moliterno, Alison R., Donna M. Williams, Ophelia Rogers, and Jerry L. Spivak. "Molecular Mimicry in the Chronic Myeloproliferative Disorders: Reciprocity between JAK2 V617F Genotype and Mpl Expression." Blood 106, no. 11 (2005): 3520. http://dx.doi.org/10.1182/blood.v106.11.3520.3520.

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Abstract Polycythemia vera (PV), idiopathic myelofibrosis (IMF) and essential thrombocytosis (ET) are clonal myeloproliferative disorders (MPD) that share in common increased blood production, megakaryocyte dysplasia, growth factor-independent colony formation and similar cytogenetic defects. Until recently, a dearth of molecular markers hindered analysis of the interrelationship of PV, IMF and ET. Mpl protein expression is decreased in most PV patients and the degree of impairment correlated with disease duration and extent. Impaired Mpl expression was also present in many IMF and ET patients
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49

Wang, Linghua, Sabina Swierczek, Kimberly Hickman, Soo-Jin Kim, David A. Wheeler, and Josef Prchal. "Molecular Characterization Of Polycythemia Vera Based On The Relationship Of JAK2V617F and 9pUPD." Blood 122, no. 21 (2013): 1607. http://dx.doi.org/10.1182/blood.v122.21.1607.1607.

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Abstract The gain-of-function mutation at codon 617 of JAK2 (JAK2V617F) is the most common somatic event observed in patients with polycythemia vera (PV), occurring in over 95% of PV patients. JAK2V617F confers cytokine hypersensitivity and cytokine-independent growth of erythroid progenitors, which are characteristic features of PV. Homozygous JAK2V617F is observed in about half of PV patients, whereas it is rarely seen in essential thrombocythemia (2-4%) and other myeloproliferative neoplasms. Homozygous JAK2V617F has been assumed to result from homozygous recombination, leading to uniparent
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50

Dias, Daniela Ferreira, Marcelo Bellesso, Rodrigo Santucci, et al. "Myeloproliferative Neoplasm with BCR-JAK2 Fusion Gene As the Result of t(9;22)(p24,11.2) in a Brazilian Patient." Blood 120, no. 21 (2012): 4808. http://dx.doi.org/10.1182/blood.v120.21.4808.4808.

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Abstract Abstract 4808 Introduction Chronic Myeloid Leukemia (CML) is the most well described disease result of t(9;22)(q34,q11.2). This chromosomal rearrangement leads to well-know BCR-ABL fusion that promotes tyrosine kinase activity. There are others oncogenic BCR fusion found such as PDGFRA (4q12), FGFR1(8p12) that causes myeloproliferative disorders (MD). JAK2 gene is one of the 4 genes members of JAK family. The JAK2 V617F mutation which results from a G –>T transversion at nucleotide 1849 in exon 14 of the JAK2 gene, the consequence of which is substitution of valine by phenylalanine
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