Cited by 843Myeloproliferative Neoplasms: Diagnosis and TreatmentPlatelet Disorders and TreatmentsAcute Myeloid Leukemia Research

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Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders

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Jones, A. V.·2005·Blood

DOI 10.1182/blood-2005-03-1320

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Abstract

The analysis of rare chromosomal translocations in myeloproliferative disorders has highlighted the importance of aberrant tyrosine kinase signaling in the pathogenesis of these diseases. Here we have investigated samples from 679 patients and controls for the nonreceptor tyrosine kinase JAK2 V617F mutation. Of the 480 myeloproliferative disorder (MPD) samples, the proportion of positive cases per disease subtype was 30 (20%) of 152 for atypical or unclassified MPD, 2 of 134 (2%) for idiopathic hypereosinophilic syndrome, 58 of 72 (81%) for polycythemia vera, 24 of 59 (41%) essential thrombocythemia (ET), and 15 of 35 (43%) for idiopathic myelofibrosis. V617F was not identified in patients with systemic mastocytosis (n = 28), chronic or acute myeloid leukemia (n = 35), secondary erythrocytosis (n = 4), or healthy controls (n = 160). Homozygosity for V617F was seen in 43% of mutant samples and was closely correlated with chromosome 9p uniparental disomy. Homozygosity was significantly less common in ET compared with other MPD subtypes. In 53 cases analyzed, the median level of PRV1 expression was significantly higher in V617F-positive cases compared with cases without the mutation. We conclude that V617F is widespread in MPDs. Detection of this acquired mutation is likely to have a major impact on the way patients with MPD are diagnosed, as well as serving as an obvious target for signal transduction therapy.

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method
Livak, K. J., & Schmittgen, T. D. (2001) · Methods · doi:10.1006/meth.2001.1262 · Cited by 180,860

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Clinical JAK2V617F mutation testing: Limited utility for general hospital patients with venous and arterial thromboses in common locations
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“[18] Patients with PV and negative JAK2V617F were sequenced to screen for JAK2 exon 12 mutation [7].”
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“However, EMH usually occurs as a pathological compensation in adults as a result of bone marrow malfunction in patients [3].”
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Myelodysplastic/myeloproliferative neoplasms
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“The JAK2 V617F mutation was identified in more than 95% of PV patients and in approximately half of the patients with ET and MF but was not observed in healthy individuals (2-6).”
BackgroundResultInfluential
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Dahabreh, I. J., Giannouli, S., Zoi, C., Zoi, K., Voulgarelis, M., & Moutsopoulos, H. Μ. (2007) · Medicine · doi:10.1097/md.0b013e31815d108c · Cited by 29
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“The reverse primers were designed by using the amplification refractory mutation system principle,(26) a strategy previously used by Jones et al.(27) The 3 -ends of the reverse primers are complementary to the mutant or wild-type cDNA sequences, and an additional mismatch was in-”
Method
CRISPR/Cas12a-Based Ultrasensitive and Rapid Detection of JAK2 V617F Somatic Mutation in Myeloproliferative Neoplasms
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Background
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“For the detection of JAK2 (V617F) allele burden level, the established pyrosequencing assay was able to detect the minimum of 5% mutant allele in wild type which was similar to the previous reports using the same technique (Jelinek et al., 2005; Jones et al., 2005).”
BackgroundMethodResultInfluential
JAK2V617F allele burden in patients with myeloproliferative neoplasms
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CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2
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“The presence/absence of V617FJAK2mutation was determined in all patients by amplification refractory mutation system polymerase chain reaction (ARMS-PCR).(40) In addition, all 404 samples were negative for the presence of MPL p.”
Method
Why Does My Patient Have Erythrocytosis?
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“On rare occasions, the same mutation occurs in myelodysplastic syndromes and de novo AML.(10-14) In our recent study,(15) an inherited predisposition to JAK2 V617F-negative NK-AML was demonstrated in 46/1 haplotype carriers.”
Background
Portal Vein Thrombosis and Budd–Chiari Syndrome
Bittencourt, P. L., Couto, C. A., & Ribeiro, D. D. (2011) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2011.09.011 · Cited by 6
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“Recently, a somatic point mutation in the JAK2 gene, 1849 G>T, which changes amino acid residue 617 of the kinase from valine to phenylalanine (JAK2 V617F ) , was identified by several studies in a substantial number of myeloproliferative disorders (MPD), including polycythemia vera (PV), essential thrombocythemia (ET…”
Background
Interferon α induces a good molecular response in a patient with chronic eosinophilic leukemia (CEL) carrying the JAK2V617F point mutation
Helbig, G., Stella-Holowiecka, B., Majewski, M., Lewandowska, M., & Hołowiecki, J. (2007) · Haematologica · doi:10.3324/haematol.11841 · Cited by 21
Chronic idiopathic myelofibrosis (CIMF) resulting from a unique 3;9 translocation disrupting the janus kinase 2 (JAK2) gene
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No influence of V617F mutation in JAK2 on outcome after allogeneic hematopoietic stem cell transplantation (HSCT) for myelofibrosis.
Ditschkowski, M., Elmaagacli, A., Trenschel, R., Steckel, N., Koldehoff, M., & Beelen, D. (2006) · Biology of Blood and Marrow Transplantation · doi:10.1016/j.bbmt.2006.07.010 · Cited by 21
Constitutive JunB expression, associated with the JAK2 V617F mutation, stimulates proliferation of the erythroid lineage
Monte-Mór, B. D. C. R., Plo, I., da Cunha, A. F., Costa, G., de Albuquerque, D. M., Jedidi, A., Villeval, J., Badaoui, S., Lorand-Metze, I. G. H., Pagnano, K. B. B., et al. (2008) · Leukemia · doi:10.1038/leu.2008.275 · Cited by 23
Relapse of postpolycythemia myelofibrosis after allogeneic stem cell transplantation in a polycythemic phase: successful treatment with donor lymphocyte infusion directed by quantitative PCR test for V617F-JAK2 mutation
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Murine Models of Myelofibrosis
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Hipk is required for JAK/STAT activity during development and tumorigenesis
Tettweiler, G., Blaquiere, J., Wray, N., & Verheyen, E. (2019) · PLoS ONE · doi:10.1371/journal.pone.0226856 · Cited by 20
“Similar activating JAK2 mutations are commonly seen in vertebrate cancers [7,13].”
Clonal Hematopoiesis and risk of Acute Myeloid Leukemia
Desai, P. M., Hassane, D. C., & Roboz, G. J. (2019) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2019.05.007 · Cited by 36
Emerging therapeutic paradigms to target the dysregulated Janus kinase/signal transducer and activator of transcription pathway in hematological malignancies
Mughal, T. I., Girnius, S. K., Rosen, S. T., Kumar, S. K., Wiestner, A. U., Abdel-Wahab, O. I., Kiladjian, J., Wilson, W. H., & Etten, R. A. V. (2013) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.3109/10428194.2013.863307 · Cited by 29
Advances in myelofibrosis: a clinical case approach
Mascarenhas, J. O., Orazi, A., Bhalla, K. N., Champlin, R. E., Harrison, C. N., & Hoffman, R. (2013) · Haematologica · doi:10.3324/haematol.2013.086348 · Cited by 18
“present in approximately 95%, 50%-60%, and 50% of PV, ET, and PMF patients, respectively.(8) Furthermore, isolated”
Background
Acquired Mutation of the Tyrosine Kinase JAK2V617F in Egyptian Patients with Myeloid Disorders
Ayad, M., & Nafea, D. (2011) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2010.0093 · Cited by 20
Histological and Molecular Classification of Chronic Myeloproliferative Disorders in the Age of JAK2: Persistence of Old Questions despite New Answers
Hussein, K., Bock, O., & Kreipe, H. H. (2007) · Pathobiology · doi:10.1159/000099120 · Cited by 19
A simple, rapid, and sensitive method for the detection of the JAK2 V617F mutation.
Tan, A., Westerman, D., & Dobrovic, A. (2007) · American Journal of Clinical Pathology · doi:10.1309/1u61jvxtlppq7yp1 · Cited by 20
A sensitive high-throughput method to detect activating mutations of Jak2 in peripheral-blood samples.
Sattler, M., Walz, C., Crowley, B. J., Lengfelder, E., Jänne, P., Rogers, A., Kuang, Y., Distel, R., Reiter, A., & Griffin, J. (2006) · Blood · doi:10.1182/blood-2005-07-2899 · Cited by 20
Thrombocytopenia in Patients With Myelofibrosis: Pathogenesis, Prevalence, Prognostic Impact, and Treatment
Sastow, D. L., Mascarenhas, J. O., & Tremblay, D. A. (2022) · Clinical Lymphoma Myeloma & Leukemia · doi:10.1016/j.clml.2022.01.016 · Cited by 23
Heat Shock Proteins and PD-1/PD-L1 as Potential Therapeutic Targets in Myeloproliferative Neoplasms
Almeida, S. D., Regimbeau, M., Jégo, G., Garrido, C., Girodon, F., & Hermetet, F. (2020) · Cancers · doi:10.3390/cancers12092592 · Cited by 21
After 10 years of JAK2V617F: Disease biology and current management strategies in polycythaemia vera
Grinfeld, J., & Godfrey, A. L. (2016) · Blood Reviews · doi:10.1016/j.blre.2016.11.001 · Cited by 18
“Whilst JAK2 exon 12mutations are specific to PV, the JAK2V617Fmutation is also found in other myeloid disorders: 50 to 60% of those with essential thrombocythaemia (ET) or primary myelofibrosis (PMF) [2– 5], about half of patients with the MDS/MPN entity “refractory anaemia with ring sideroblasts and marked thrombocyt…”
Background
Chronic myelomonocytic leukemia: Forefront of the field in 2015
Benton, C. B., Nazha, A., Pemmaraju, N., & Garcia‐Manero, G. (2015) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2015.03.002 · Cited by 26
“Though JAK2 V617F mutations are less frequent in CMML than in polycythemia vera, essential thrombocytosis, or primary myelofibrosis [39-42], in one series, Pich et al.”
Background
The mutation profile of JAK2, MPL and CALR in Mexican patients with Philadelphia chromosome-negative myeloproliferative neoplasms
Labastida-Mercado, N., Galindo-Becerra, S. L., Garcés‐Eisele, J., Colunga-Pedraza, P. R., Guzman-Olvera, V., Reyes‐Núñez, V., Ruiz‐Delgado, G. J., & Ruiz-Argüelles, G. J. (2015) · Hematology/Oncology and Stem Cell Therapy · doi:10.1016/j.hemonc.2014.12.002 · Cited by 24
“[3,4] Although there are stringent diagnostic criteria for MPN subtypes, precise categorization remains a subject of debate and, furthermore, it can be difficult to differentiate some cases from reactive disorders.”
Background
Genotyping of 25 Leukemia-Associated Genes in a Single Work Flow by Next-Generation Sequencing Technology with Low Amounts of Input Template DNA
Rinke, J., Schäfer, V., Schmidt, M., Ziermann, J., Kohlmann, A., Hochhaus, A., & Ernst, T. (2013) · Clinical Chemistry · doi:10.1373/clinchem.2013.204099 · Cited by 17
Quantitative threefold allele-specific PCR (QuanTAS-PCR) for highly sensitive JAK2 V617F mutant allele detection
Zapparoli, G. V., Jorissen, R., Hewitt, C., McBean, M., Westerman, D., & Dobrovic, A. (2013) · BMC Cancer · doi:10.1186/1471-2407-13-206 · Cited by 19
“The use of high resolution melting (HRM) as a quality control step The exon 9 and the JAK2 V617F mutation-specific PCR assays use probe-free real-time amplification with a fluorescent intercalating dye (SYTO 9) to enable both quantification and HRM.”
BackgroundMethodInfluential
Development and Inter-Laboratory Validation of Unlabeled Probe Melting Curve Analysis for Detection of JAK2 V617F Mutation in Polycythemia Vera
Wu, Z.-Y., Yuan, H., Zhang, X.-J., Liu, W.-W., Xu, J., Zhang, W., & Guan, M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0026534 · Cited by 19
“The JAK2 V617F mutation, first described in 2005, has become an important diagnostic criterion in Philadelphia chromosome negative myeloproliferative diseases, especially in polycythemia vera (PV) [1–4].”
Background
Hematological disorders related cerebral infarctions are mostly multifocal
Fagniez, O., Tertian, G., Dreyfus, M., Ducreux, D., Adams, D., & Denier, C. (2011) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2011.02.004 · Cited by 18
“By contrast the presence of acquired mutation of JAK2 V617F, which is found in a vastmajority of polycythemia vera patients (90–95%) and in almost half of thosewith essential thrombocytemia and primarymyelofibrosis,[22] is not presently identified as an independent risk factor for arterial thrombosis [20].”
Background
Two-round allele specific-polymerase chain reaction: a simple and highly sensitive method for JAK2V617F mutation detection.
Kannim, S., Thongnoppakhun, W., & Auewarakul, C. (2009) · Clinica chimica acta; international journal of clinical chemistry · doi:10.1016/j.cca.2008.12.010 · Cited by 19
JAK2 V617F patients with essential thrombocythemia present with clinical features of polycythemia vera
Zhang, S.-J., Qiu, H., Fischer, B., Li, W.-D., Duan, L., Sun, X., Xu, W., & Li, J.-Y. (2008) · Leukemia and Lymphoma · doi:10.1080/10428190701885537 · Cited by 19
“JAK2 V617F can be occasionally detected also in ‘‘atypical’’ MPD, myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia, systemic mastocytosis, chronic neutrophilic leukemia and hypereosinophilic syndrome (HES) [10,11].”
Background
Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: implications for mutation detection in peripheral blood
Stevenson, W., Hoyt, R., Bell, A., Guipponi, M., Juneja, S., Grigg, A., Curtis, D., Scott, H., Szer, J., Alexander, W., et al. (2006) · Pathology (Sydney) · doi:10.1080/00313020600820906 · Cited by 19
Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis.
Karaköse, S., Oruç, N., Zengin, M., Akarca, U., & Ersöz, G. (2015) · The Turkish Journal of Gastroenterology · doi:10.5152/tjg.2015.5738 · Cited by 19
Prevalence of the Janus kinase 2 V617F mutation in Philadelphia-negative myeloproliferative neoplasms in a Portuguese population
Azevedo, A. P., Silva, S., Reichert, A., Lima, F., Júnior, E., & Rueff, J. (2017) · Biomedical Reports · doi:10.3892/br.2017.977 · Cited by 14
“…JAK2 V617F mutation in the pathogenicity of the different MPNs may differ amongst different MPNs requiring the JAK2 V617F mutation more often than others (e.g., ET vs. PV), which would indicate other oncogenic mutations that may be relevant for certain cases others than JAK2 V617F (16,33,58,59).”
Detection of mutations in JAK 2 exons 12–15 by Sanger sequencing
AlGhasham, N., Alnouri, Y., Abalkhail, H., & Khalil, S. H. (2015) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.12425 · Cited by 16
“pathway in hematopoietic myeloid precursors [12].”
The relationship between factor V Leiden, prothrombin G20210A, and MTHFR mutations and the first major thrombotic episode in polycythemia vera and essential thrombocythemia
Trifa, A., Cucuianu, A., Popp, R., Coadǎ, C., Costache, R., Militaru, M., Vesa, Ș., & Pop, I. V. (2014) · Annals of Hematology · doi:10.1007/s00277-013-1838-6 · Cited by 18
The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population
Ohyashiki, J. H., Yoneta, M., Hisatomi, H., Iwabuchi, T., Umezu, T., & Ohyashiki, K. (2012) · BMC Medical Genetics · doi:10.1186/1471-2350-13-6 · Cited by 20
Impact of common thrombophilias and JAK2 V617F on pregnancy outcomes in unselected Italian women
Grandone, E., Colaizzo, D., Tiscia, G., Vergura, P., Cappucci, F., Greco, L., Margaglione, M., & Martinelli, P. (2011) · Journal of Thrombosis and Haemostasis · doi:10.1111/j.1538-7836.2011.04183.x · Cited by 18
The Stilbenoid Tyrosine Kinase Inhibitor, G6, Suppresses Jak2-V617F-mediated Human Pathological Cell Growth in Vitro and in Vivo*
Kirabo, A., Embury, J., Kiss, R., Polgár, T., Gali, M., Majumder, A., Bisht, K., Cogle, C., Keserű, G., & Sayeski, P. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.200774 · Cited by 18
JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts with thrombocytosis, and acute myeloid leukemia
Jekarl, D., Han, S.-B., Kim, M., Lim, J.-Y., Oh, E., Kim, Y., Kim, H.-J., Min, W., & Han, K. (2010) · The Korean Journal of Hematology · doi:10.5045/kjh.2010.45.1.46 · Cited by 18
“included in this category, except chronic myelogenous leukemia [2].”
The Gain-of-Function JAK2 V617F Mutation Shifts the Phenotype of Essential Thrombocythemia and Chronic Idiopathic Myelofibrosis to More “Erythremic” and Less “Thrombocythemic”: A Molecular, Histologic, and Clinical Study
Rudzki, Z., Sacha, T., Stoj, A., Czekalska, S., Wójcik, M., Skotnicki, A., Grabowska, B., Zduńczyk, A., Okoń, K., & Stachura, J. (2007) · International journal of hematology · doi:10.1532/ijh97.e0607 · Cited by 18
“In contrast to our study, other investigators based their findings mostly or exclusively on DNA templates derived from peripheral blood samples [13,14,16, 23 ,24,27,29,31].”
BackgroundResultInfluential
Classification of Ph-Negative Chronic Myeloproliferative Disorders – Morphology as the Yardstick of Classification
Kvasnicka, H., & Thiele, J. (2007) · Pathobiology (Basel) · doi:10.1159/000101706 · Cited by 18
The treatment of polycythaemia vera: an update in the JAK2 era
Finazzi, G., & Barbui, T. (2007) · Internal and Emergency Medicine · doi:10.1007/s11739-007-0003-4 · Cited by 18
Hematopoietic growth factors, signaling and the chronic myeloproliferative disorders
Kaushansky, K. (2006) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2006.09.005 · Cited by 22
Diagnostic Assays for theJAK2V617F Mutation in Chronic Myeloproliferative Disorders
Greiner, T. (2006) · doi:10.1309/nxxtgrcxd0tma3c2 · Cited by 18
NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition
Vesting, A. J., Jais, A., Klemm, P., Steuernagel, L., Wienand, P., Fog-Tonnesen, M., Hvid, H., Schumacher, A.-L., Kukat, C., Nolte, H., et al. (2022) · Molecular Metabolism · doi:10.1016/j.molmet.2022.101626 · Cited by 17
“JAK2 mutants lacking the JH2 domain show uncontrolled activity [58] whereas a common JH2-intrinsic acquired JAK2 V617F mutation renders JAK2 constitutively active driving a group of myeloproliferative diseases [59 e 62].”
Background
Clinical Effect of Combined Mutations in DNMT3A, FLT3-ITD, and NPM1 Among Egyptian Acute Myeloid Leukemia Patients
Gammal, M. M. E., Ebid, G., Madney, Y., Abo-Elazm, O. M., Kelany, A. K., Torra, O. S., & Radich, J. P. (2019) · Clinical Lymphoma Myeloma & Leukemia · doi:10.1016/j.clml.2019.02.001 · Cited by 18
Understanding the structural features of JAK2 inhibitors: a combined 3D-QSAR, DFT and molecular dynamics study
Babu, S., Nagarajan, S. K., & Madhavan, T. (2019) · Molecular Diversity · doi:10.1007/s11030-018-09913-4 · Cited by 17
Clinical management of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes
Clara, J., Clara, J., Sallman, D. A., Padron, E., Sallman, D. A., & Padron, E. (2016) · Cancer Biology and Medicine · doi:10.20892/j.issn.2095-3941.2016.0043 · Cited by 18
Acquired uniparental disomy of chromosome 9p in hematological malignancies
Wang, L.-H., Wheeler, D., & Prchal, J. (2015) · Experimental Hematology · doi:10.1016/j.exphem.2015.11.005 · Cited by 17
Making sense of the myelodysplastic/myeloproliferative neoplasms overlap syndromes
Tiu, R., & Sekeres, M. (2014) · Current opinion in hematology · doi:10.1097/moh.0000000000000021 · Cited by 17
A BCR–JAK2 fusion gene from ins(22;9)(q11;p13p24) in a patient with atypical chronic myeloid leukemia
Xu, Y., Yin, J., Pan, J.-L., Wu, C.-X., Wang, Q.-R., Yao, H., Wu, D.-P., Chen, S.-N., & Sun, A. (2013) · Leukemia and Lymphoma · doi:10.3109/10428194.2012.762648 · Cited by 17
Allelic Expression Imbalance of JAK2 V617F Mutation in BCR-ABL Negative Myeloproliferative Neoplasms
Kim, H., Choi, H., Kim, Y., Kim, H., Shin, J. H., Suh, S., Ryang, D., & Shin, M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0052518 · Cited by 18
“Pyrosequencing for quantification of JAK2 V617F mutant A published protocol [20] was used for sample preparation and pyrosequencing for JAK2 V617F genotyping and allele quantitation.”
Method
JAK2 V617F-Dependent Upregulation of PU.1 Expression in the Peripheral Blood of Myeloproliferative Neoplasm Patients
Irino, T., Uemura, M., Yamane, H., Umemura, S., Utsumi, T., Kakazu, N., Shirakawa, T., Ito, M., Suzuki, T., & Kinoshita, K. (2011) · PLoS ONE · doi:10.1371/journal.pone.0022148 · Cited by 21
“These findings are consistent with previous reports [2,7].”
BackgroundResult
Hydroxyurea dose impacts hematologic parameters in polycythemia vera and essential thrombocythemia but does not appreciably affect JAK2-V617F allele burden
Zalcberg, I., Ayres-Silva, J., de Azevedo, A. M., Solza, C., Daumas, A. H., & Bonamino, M. (2011) · Haematologica · doi:10.3324/haematol.2010.037846 · Cited by 17
“The JAK2V617F allele load was measured by an allele-specific PCR with fluorescent primers in DNA of density gradient purified granulocytes according to Jones et al.(2) with slight modifications.”
Method
Sensitive detection of MPLW515L/K mutations by amplification refractory mutation system (ARMS)-PCR.
Zhuge, J., Zhang, W., Xu, M.-J., Hoffman, R., & Zhang, W.-Y. (2010) · Clinica chimica acta; international journal of clinical chemistry · doi:10.1016/j.cca.2009.10.012 · Cited by 17
PU.1 expression is restored upon treatment of chronic myeloid leukemia patients
Albajar, M., Gutierrez, P., Richard, C., Rosa‐Garrido, M., Gómez‐Casares, M. T., Steegmann, J. L., León, J., & Delgado, M. D. (2008) · Cancer Letters · doi:10.1016/j.canlet.2008.05.024 · Cited by 16
The diagnosis of polycythemia vera: New tests and old dictums
Tefferi, A. (2006) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2005.07.005 · Cited by 13
Hydroxyurea: The drug of choice for polycythemia vera and essential thrombocythemia
Dingli, D., & Tefferi, A. (2006) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-006-0025-4 · Cited by 17
New Advances in the Pathogenesis and Therapy of Essential Thrombocythemia
Levine, R. L., & Heaney, M. L. (2008) · Hematology · doi:10.1182/asheducation-2008.1.76 · Cited by 18
A Fresh Look at the Normal Mode Analysis of Proteins: Introducing Allosteric Co-Vibrational Modes
Kolossváry, I. (2024) · JACS Au · doi:10.1021/jacsau.4c00109 · Cited by 16
“27 Original research by McNally et al. discovered that Compound 2 in complex with the V617F domain (PDB code 6G3C) preferred the wild-type (WT) domain structure (PDB code 4fVQ) over the mutated oncogenic form (PDB code 4FVR).”
Background
Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank
Patrick, M., Bardhi, R., Zhou, W., Elder, J. T., Gudjonsson, J., & Tsoi, L. (2022) · Genome Medicine · doi:10.1186/s13073-022-01094-y · Cited by 16
Development of a high resolution melting analysis assay for rapid identification of JAK2 V617F missense mutation and its validation
Moradabadi, A., Farsinejad, A., Khansarinejad, B., & Fatemi, A. (2019) · Experimental Hematology and Oncology · doi:10.1186/s40164-019-0134-0 · Cited by 18
“to evaluate the methods of identifying mutations in JAK2 V617F, techniques such as ARMS PCR were introduced as an appropriate and costeffective method in order to examine the exact mutation [7].”
Method
Clinical diagnosis of adult patients with acute megakaryocytic leukemia
Zhao, G., Wu, W.-L., Wang, X.-Q., & Gu, J.-W. (2018) · Oncology Letters · doi:10.3892/ol.2018.9501 · Cited by 16
“Patients and controls were genotyped by a DNA tetra‑primer Amplification Refractory Mutation Screening (ARMS) assay (11), a method that uses 2 primer pairs to amplify the normal and mutant sequences plus a positive control band specifically in a single reaction.”
Impact of Copy Neutral Loss of Heterozygosity and Total Genome Aberrations on Survival in Myelodysplastic Syndrome
Yeung, C. C. S., McElhone, S. W., Chen, X.-Y., Ng, D. P., Storer, B., Deeg, H., & Fang, M. (2017) · Modern Pathology · doi:10.1038/modpathol.2017.157 · Cited by 16
“This observation suggests that 9p copy neutral loss of heterozygosity might be limited to specific semi-committed hematopoietic cells in myelodysplastic syndrome pathogenesis, whereas 17p copy neutral loss of heterozygosity could occur in more pluripotent hematopoietic stem cells(40, 41).”
A data-driven network model of primary myelofibrosis: transcriptional and post-transcriptional alterations in CD34+ cells
Calura, E., Pizzini, S., Bisognin, A., Coppe, A., Sales, G., Gaffo, E., Fanelli, T., Mannarelli, C., Zini, R., Norfo, R., et al. (2016) · Blood Cancer Journal · doi:10.1038/bcj.2016.47 · Cited by 18
Detection of MPLW515L/K Mutations and Determination of Allele Frequencies with a Single-Tube PCR Assay
Takei, H., Morishita, S., Araki, M., Edahiro, Y., Sunami, Y., Hironaka, Y., Noda, N., Sekiguchi, Y., Tsuneda, S., Ohsaka, A., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104958 · Cited by 16
“The major JAK2 mutation found in MPN patients is JAK2V617F (G1849T); therefore, epidemiological studies of MPN examining JAK2V617F have been greatly facilitated by PCR-based assays, such as ARMS (amplification refractory mutation system)-PCR [6], ABC (alternately binding probe competitive)-PCR [7], and allele specific…”
Association of JAK2 mutation status and cytogenetic abnormalities in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms.
Dunlap, J., Kelemen, K., Leeborg, N., Braziel, R., Olson, S. B., Press, R., Huang, J. Z., Gatter, K., Loriaux, M., & Fan, G. (2011) · American Journal of Clinical Pathology · doi:10.1309/ajcps6c8evycqnrm · Cited by 16
IDH1 R132H mutation is a rare event in myeloproliferative neoplasms as determined by a mutation specific antibody
Andrulis, M., Capper, D., Meyer, J., Penzel, R., Hartmann, C. J., Zentgraf, H., & von Deimling, A. (2010) · Haematologica · doi:10.3324/haematol.2010.024430 · Cited by 14
Development of a Reliable PCR-RFLP Assay for Investigation of the JAK2 rs10974944 SNP, Which Might Predispose to the Acquisition of Somatic Mutation JAK2V617F
Trifa, A., Cucuianu, A., & Popp, R. (2009) · Acta Haematologica · doi:10.1159/000264954 · Cited by 16
“Polycythemia vera, essential thrombocythemia and primary myelofibrosis are the 3 classical myeloproliferative neoplasms (MPNs), negative for the BCR-ABL fusion. Their molecular physiopathology remained obscure for decades, until several research groups reported in 2005 that a single somatic point mutation in the gene…”
Background
Janus kinase 2 mutations in Philadelphia negative chronic myeloproliferative disorders: clinical implications.
Panani, A. (2009) · Cancer Letters · doi:10.1016/j.canlet.2009.02.010 · Cited by 16
The JAK2(V617F) tyrosine kinase mutation in blood donors with upper-limit haematocrit levels.
Tagariello, G., Gaetano, R. D., Sartori, R., Zanotto, D., Belvini, D., Radossi, P., Risato, R., Roveroni, G., Salviato, R., Tassinari, C., et al. (2009) · Blood transfusion = Trasfusione del sangue · doi:10.2450/2008.0049-08 · Cited by 16
HFE C282Y Mutation as a Genetic Modifier Influencing Disease Susceptibility for Chronic Myeloproliferative Disease
Andrikovics, H., Meggyesi, N., Szilvási, A., Tamáska, J., Halm, G., Lueff, S., Nahajevszky, S., Egyed, M., Várkonyi, J., Mikala, G., et al. (2009) · Cancer Epidemiology, Biomarkers and Prevention · doi:10.1158/1055-9965.epi-08-0359 · Cited by 16
“4% (19 of 27) in CIMF patients; the values are within the range published in the literature (22-25, 42, 43).”
Result

Authors: Jones, A. V.
Affiliations: Cornell University (US)
Corresponding author: Jones, A. V.
ORCID: Jones, A. V.
Venue: Blood
Publisher: American Society of Hematology
Published: 2005-09-15
Volume: 106
Issue: 6
Pages: 2162-2168
ISSN: 0006-4971 (ISSN-L)
1528-0020
DOI: 10.1182/blood-2005-03-1320
OpenAlex: W2126665281
Cited by: 843
References: 0
Citations by year: 2026: 4 · 2025: 6 · 2024: 17 · 2023: 22 · 2022: 12 · 2021: 19 · 2020: 21 · 2019: 30 · 2018: 15 · 2017: 21 · 2016: 32 · 2015: 47 · 2014: 38 · 2013: 46 · 2012: 40
FWCI: 43.05
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Blood (publishedVersion)
PubMed (publishedVersion)
ePrints Soton (University of Southampton) (submittedVersion)
Topics: Health Sciences › Medicine › Hematology › Myeloproliferative Neoplasms: Diagnosis and Treatment
Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Keywords: JAK2 V617F mutation, myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia, primary myelofibrosis, idiopathic hypereosinophilic syndrome, tyrosine kinase signaling, mutation prevalence
MeSH terms: Chronic Disease, Female, Homozygote, Humans, Male, Myeloproliferative Disorders, Protein-Tyrosine Kinases, Proto-Oncogene Proteins, Signal Transduction, Prevalence, Case-Control Studies, Molecular Epidemiology, Microsatellite Repeats, Mutation, Missense, Janus Kinase 2

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Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders

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