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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Background
JAK2-V617F-induced MAPK activity is regulated by PI3K and acts synergistically with PI3K on the proliferation of JAK2-V617F-positive cells
Wolf, A., Eulenfeld, R., Gäbler, K., Rolvering, C., Haan, S., Behrmann, I., Denecke, B., Haan, C., & Schaper, F. (2013) · JAK-STAT · doi:10.4161/jkst.24574 · Cited by 34
JAK2-V617F mutation and Philadelphia positive chronic myeloid leukemia.
Campiotti, L., Appio, L., Solbiati, F., Ageno, W., & Venco, A. (2009) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2009.06.011 · Cited by 35
Detection of the JAK2(V617F) mutation in myeloproliferative disorders by melting curve analysis using the LightCycler system.
Olsen, R., Tang, Z.-W., Farkas, D. H., Bernard, D. W., Zu, Y.-L., & Chang, C. (2006) · Archives of Pathology & Laboratory Medicine · doi:10.1043/1543-2165(2006)130[997:dotjmi]2.0.co;2 · Cited by 35
The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms
Trifa, A. P., Cucuianu, A., Petrov, L., Urian, L. G., Militaru, M. S., Dima, D. M., Pop, I. V., & Popp, R. A. (2010) · Annals of Hematology · doi:10.1007/s00277-010-0960-y · Cited by 29
“mutational status was assessed semiquantitatively in all patients by a tetra-primer polymerase chain reaction (PCR) assay, as previously described [1].”
BackgroundMethod
The Role of LNK (SH2B3) in the Regulation of JAK-STAT Signalling in Haematopoiesis
Morris, R., Butler, L. A., Perkins, A. C., Kershaw, N. J., & Babon, J. J. (2021) · Pharmaceuticals · doi:10.3390/ph15010024 · Cited by 43
Janus kinase 2 variants associated with the transformation of myeloproliferative neoplasms into acute myeloid leukemia
Benton, C., Boddu, P., Dinardo, C., Bose, P., Wang, F., Assi, R., Pemmaraju, N., Kc, D., Pierce, S., Patel, K., et al. (2019) · Cancer · doi:10.1002/cncr.31986 · Cited by 33
Signal Transduction in the Chronic Leukemias: Implications for Targeted Therapies
Ahmed, W. B., & Etten, R. A. V. (2013) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-012-0150-1 · Cited by 33
“The JAK2 mutation is detected in more than 95 % of patients with PV, 50%–70%with ET, and 40%–50%withMF, as well as in some cases of atypical MPN [74].”
Background
A real-time polymerase chain reaction assay for rapid, sensitive, and specific quantification of the JAK2V617F mutation using a locked nucleic acid-modified oligonucleotide.
Denys, B., El-Housni, H., Nollet, F., Verhasselt, B., & Philippé, J. (2010) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2010.090137 · Cited by 33
JAK2V617F mutation in essential thrombocythemia: correlation with clinical characteristics, response to therapy and long-term outcome in a cohort of 275 patients
Palandri, F., Ottaviani, E., Salmi, F., Catani, L., Polverelli, N., Fiacchini, M., Martinelli, G., Baccarani, M., & Vianelli, N. (2009) · Leukemia and Lymphoma · doi:10.1080/10428190802688152 · Cited by 33
Atypical Chronic Myeloid Leukemia: Where Are We Now?
Crisà, E., Nicolosi, M., Ferri, V., Favini, C., Gaïdano, G., & Patriarca, A. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21186862 · Cited by 36
“s ll t J , , il t , lt f c s f a e ee re orted to harbor J K2 utations [15,25].”
Background
Differential expression of apoptosis-related genes from death receptor pathway in chronic myeloproliferative diseases
Tognon, R., Gasparotto, E. P. L., Leroy, J., Oliveira, G. L. V., Neves, R. P., Carrara, R. D. C. V., Kashima, S., Covas, D., Santana, M., Souto, E. X., et al. (2010) · Journal of Clinical Pathology · doi:10.1136/jcp.2010.080895 · Cited by 32
Comparative evaluation of three JAK2V617F mutation detection methods.
Frantz, C., Sekora, D. M., Henley, D., Huang, C.-K., Pan, Q., Quigley, N., Gorman, E., Hubbard, R. A., & Mirza, I. (2007) · American Journal of Clinical Pathology · doi:10.1309/lw7q3739rbrmbxxp · Cited by 32
The role of Janus Kinase 2 V617F mutation in extramedullary hematopoiesis of the spleen in neoplastic myeloid disorders
Hsieh, P.-P., Olsen, R., O'Malley, D. P., Konoplev, S., Hussong, J. W., Dunphy, C., Perkins, S., Cheng, L., Lin, P., & Chang, C. (2007) · Modern Pathology · doi:10.1038/modpathol.3800826 · Cited by 32
Point mutations of protein kinases and individualised cancer therapy
Davies, M. A., Hennessy, B. T., & Mills, G. B. (2006) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.7.16.2243 · Cited by 34
Looking lively: emerging principles of pseudokinase signaling
Sheetz, J. B., & Lemmon, M. A. (2022) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2022.04.011 · Cited by 44
LNK suppresses interferon signaling in melanoma
Ding, L., Sun, Q., Edwards, J. J., Fernández, L. T., Ran, X., Zhou, S., Scolyer, R. A., Wilmott, J. S., Thompson, J. F., Doan, N., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09711-y · Cited by 34
Minimal residual disease testing in hematologic malignancies and solid cancer
Lassoued, A. B., Nivaggioni, V., & Gabert, J. A. (2014) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.2014.927311 · Cited by 29
“Studies on myeloproliferative neoplasms have shown a high incidence of the JAK2 V617F mutation in a large proportion of patients with polycythemia vera, chronic idiopathic myelofibrosis and essential thrombocythemia [32,33].”
Background
Molecular mechanisms that produce secondary MDS/AML by RUNX1/AML1 point mutations
Harada, Y., & Harada, H. (2010) · Journal of Cellular Biochemistry · doi:10.1002/jcb.22974 · Cited by 27
“, 2005], whose detection is used in the differential diagnosis of MPN [Jones et al., 2005].”
BackgroundMethod
Activation of JAK2-V617F by Components of Heterodimeric Cytokine Receptors*
Pradhan, A. R., Lambert, Q., Griner, L. N., & Reuther, G. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.071191 · Cited by 31
Detection of the JAK2 V617F missense mutation by high resolution melting analysis and its validation.
Er, T., Lin, S.-F., Chang, J.-G., Hsieh, L.-L., Lin, S.-K., Wang, L.-H., Lin, C.-W., Chang, C.-S., & Liu, T.-C. (2009) · Clinica chimica acta; international journal of clinical chemistry · doi:10.1016/j.cca.2009.07.002 · Cited by 31
Mechanisms of constitutive activation of Janus kinase 2‐V617F revealed at the atomic level through molecular dynamics simulations
Lee, T.-S., Ma, W.-L., Zhang, X., Giles, F., Kantarjian, H., & Albitar, M. (2009) · Cancer · doi:10.1002/cncr.24183 · Cited by 31
“In 2005, 7 independent studies identified the V617F mutation of the JAK-homology domain 2 (JH2) of JAK2 in large numbers of patients with diverse clonal myeloid disorders.(9,13-22) This surprisingly common mutation in patients with BCR-ABL–negative MPDs raises many provocative biologic and clinical questions.”
Background
Chronic Myeloproliferative Disorders: The Role of Tyrosine Kinases in Pathogenesis, Diagnosis and Therapy
Macdonald, D., & Cross, N. C. P. (2007) · Pathobiology (Basel) · doi:10.1159/000101707 · Cited by 31
“This is yet again an example of release of the normal inhibitory constraints on TK activity leading to abnormal cell proliferation (fig. 3 ).In different studies the JAK2 V617F -acquired mutation was found in 65–97p of cases of PV, and 30–50p of ET and CIMF. This variable incidence relates mainly to the sensitivity of…”
Background
Chronic idiopathic myelofibrosis: clinicopathologic features, pathogenesis, and prognosis.
Ahmed, A., & Chang, C. (2006) · Archives of Pathology & Laboratory Medicine · doi:10.1043/1543-2165(2006)130[1133:cim]2.0.co;2 · Cited by 31
Combined locked nucleic acid and molecular beacon technologies for sensitive detection of the JAK2V617F somatic single-base sequence variant.
Sidon, P., Heimann, P., Lambert, F., Dessars, B., Robin, V., & El-Housni, H. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2006.066886 · Cited by 31
Real‐Time PCR and Droplet Digital PCR : two techniques for detection of the JAK 2 V617F mutation in Philadelphia‐negative chronic myeloproliferative neoplasms
Fontanelli, G., Baratè, C., Ciabatti, E., Guerrini, F., Grassi, S., Re, M. D., Morganti, R., Petrini, I., Arici, R., Barsotti, S., et al. (2015) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.12404 · Cited by 39
“DISCUSSION As well known, detection of JAK2V617F mutation is necessary for the diagnosis and follow-up of MPNs (Baxter et al. 2005; Jones et al. 2005; Chen et al. 2007), and its prognostic role is also documented [17, 18, 25].”
Background
Contribution of chaperones to STAT pathway signaling
Bocchini, C. E., Kasembeli, M. M., Roh, S., & Tweardy, D. J. (2014) · JAK-STAT · doi:10.4161/21623988.2014.970459 · Cited by 27
Alpha‐ and beta‐synucleins are new diagnostic tools for acute erythroid leukemia and acute megakaryoblastic leukemia
Maitta, R. W., Wolgast, L. R., Wang, Q., Zhang, H., Bhattacharyya, P. K., Gong, J. Z., Sunkara, J. L., Albanese, J. M., Pizzolo, J. G., Cannizzaro, L. A., et al. (2010) · American Journal of Hematology · doi:10.1002/ajh.21932 · Cited by 28
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis
Percy, M. J., & Rumi, E. (2008) · American Journal of Hematology · doi:10.1002/ajh.21313 · Cited by 30
Evaluation of “Increased” Hemoglobin in the JAK2 Mutations Era: A Diagnostic Algorithm Based on Genetic Tests
Tefferi, A., & Pardanani, A. D. (2007) · Mayo Clinic Proceedings · doi:10.4065/82.5.599 · Cited by 33
Polycythemia vera: new clinicopathologic perspectives.
Cao, M., Olsen, R., & Zu, Y.-L. (2006) · Archives of Pathology & Laboratory Medicine · doi:10.1043/1543-2165(2006)130[1126:pv]2.0.co;2 · Cited by 30
Essential thrombocythemia: scientific advances and current practice
Tefferi, A. (2006) · Current opinion in hematology · doi:10.1097/01.moh.0000208470.86732.b4 · Cited by 30
Open‐label study of oral CEP ‐701 (lestaurtinib) in patients with polycythaemia vera or essential thrombocythaemia with JAK 2‐V617F mutation
Hexner, E. O., Roboz, G. J., Hoffman, R., Luger, S. M., Mascarenhas, J. O., Carroll, M. P., Clementi, R. A., Bensen-Kennedy, D. M., & Moliterno, A. R. (2013) · British Journal of Haematology · doi:10.1111/bjh.12607 · Cited by 29
The impact of cytogenetic abnormalities on the prognosis of primary myelofibrosis: a prospective survey of 202 cases in Japan
Hidaka, T., Shide, K., Shimoda, H. K., Kameda, T., Toyama, K., Katayose, K., Kubuki, Y., Nagata, K., Takenaka, K., Akashi, K., et al. (2009) · European Journal of Haematology · doi:10.1111/j.1600-0609.2009.01298.x · Cited by 29
“Six of 7 patients in their report (16), and 9 of 11 patients harboring del(7) or )7 in our study had other chromosomal aberrations.”
Background
A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD).
Koren-Michowitz, M., Shimoni, A., Vivante, A., Trakhtenbrot, L., Rechavi, G., Amariglio, N., Loewenthal, R., Nagler, A., & Cohen, Y. (2008) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2007.07.003 · Cited by 29
JAK2-V617F activating mutation in acute myeloid leukemia: prognostic impact and association with other molecular markers
Vicente, C., Vázquez, I., Marcotegui, N., Conchillo, A., Carranza, C., Rivell, G., Bandrés, E., Cristóbal, I., Lahortiga, I., Calasanz, M., et al. (2007) · Leukemia · doi:10.1038/sj.leu.2404812 · Cited by 29
The chronic myeloproliferative disorders and mutation of JAK2: Dameshek's 54 year old speculation comes of age
Kaushansky, K. (2007) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2006.11.005 · Cited by 29
Chromosomal abnormalities and molecular markers in myeloproliferative disorders.
Bench, A., & Pahl, H. (2005) · Seminars in hematology (Print) · doi:10.1053/j.seminhematol.2005.08.001 · Cited by 29
Clonal Hematopoiesis and Mutations of Myeloproliferative Neoplasms
Kjær, L. (2020) · Cancers · doi:10.3390/cancers12082100 · Cited by 30
“The mutation was subsequently found to be present in around 50% of ET and PMF patients and in approximately 97% of PV patients [28,29], whereas it was only occasionally identified in myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), and refractory anemia with ringed sideroblasts with marked thrombocytosis…”
Background
Targeting few to help hundreds: JAK, MAPK and ROCK pathways as druggable targets in atypical chronic myeloid leukemia
Rocca, S., Carrà, G., Poggio, P., Morotti, A., & Brancaccio, M. (2018) · Molecular Cancer · doi:10.1186/s12943-018-0774-4 · Cited by 28
“The JAK2 V617F mutation is found rarely in aCML cases [23, 24], while it is frequent in Polycythaemia Vera (PV), Essential Thrombocythemia (ET) and Myelofibrosis (MF) [5].”
JAK2V617F allele burden is associated with transformation to myelofibrosis
Koren-Michowitz, M., Landman, J., Cohen, Y., Rahimi-Levene, N., Salomon, O., Michael, M., Amariglio, N., & Nagler, A. (2012) · Leukemia and Lymphoma · doi:10.3109/10428194.2012.682308 · Cited by 28
Cytogenetic and molecular aspects of Philadelphia negative chronic myeloproliferative disorders: clinical implications.
Panani, A. (2007) · Cancer Letters · doi:10.1016/j.canlet.2007.02.009 · Cited by 28
An Update on JAK Inhibitors
Musumeci, F., Greco, C., Giacchello, I., Fallacara, A. L., Ibrahim, M. M., Grossi, G., Brullo, C., & Schenone, S. (2018) · Current Medicinal Chemistry · doi:10.2174/0929867325666180327093502 · Cited by 46
Clinical and biological characterization of patients with low (0.1–2%) JAK2V617F allele burden at diagnosis
Lippert, E., Mansier, O., Migeon, M., Denys, B., Nilsson, Å., Rosmond, C., Lodé, L., Ugo, V., Lascaux, A., Bellosillo, B., et al. (2014) · Haematologica · doi:10.3324/haematol.2014.107656 · Cited by 27
A novel, highly sensitive and rapid allele-specific loop-mediated amplification assay for the detection of the JAK2V617F mutation in chronic myeloproliferative neoplasms
Minnucci, G., Amicarelli, G., Salmoiraghi, S., Spinelli, O., Montalvo, M. L. G., Giussani, U., Adlerstein, D., & Rambaldi, A. (2012) · Haematologica · doi:10.3324/haematol.2011.056184 · Cited by 27
“However, its sensitivity is between 5% and 10%.(20) Finally, different quantitative assays have been described in the literature and some of them are commercially available but, as yet, accurate quantification of the JAK2V617F allele burden is still far from being a routine practice.”
Background
Why does my patient have thrombocytosis?
Sulai, N., & Tefferi, A. (2012) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2012.01.003 · Cited by 27
Oncogenic JAK2V617F requires an intact SH2-like domain for constitutive activation and induction of a myeloproliferative disease in mice.
Gorantla, S., Dechow, T., Grundler, R., Illert, A., Büschenfelde, C. M. Z., Kremer, M., Peschel, C., & Duyster, J. (2010) · Blood · doi:10.1182/blood-2009-07-236133 · Cited by 27
Mechanisms of platelet activation in cancer-associated thrombosis: a focus on myeloproliferative neoplasms
Bekendam, R. H., & Ravid, K. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1207395 · Cited by 33
“After identification of the gain-of-function mutation in the JAK2 kinase, JAK2, several groups dedicated their efforts to develop mouse models that allow for understanding of the effect on intrinsic hematopoiesis and PV/ET progression to myelofibrosis or secondary leukemia (Baxter et al., 2005; James et al., 2005; Jon…”
Background
Approved Small-Molecule ATP-Competitive Kinases Drugs Containing Indole/Azaindole/Oxindole Scaffolds: R&D and Binding Patterns Profiling
Zhang, H., He, F., Gao, G., Sheng, L., Wei, Q., Hu, H., Wu, Z., Fang, M., & Wang, X. (2023) · Molecules · doi:10.3390/molecules28030943 · Cited by 35
“In 2005, researchers identified in patients with myeloproliferative neoplasms V617F mutations in JAK2, including myelofibrosis, true erythroblastosis, and primary thrombocytopenia [100].”
Background
Transcriptome analysis of the Macrobrachium nipponense hepatopancreas provides insights into immunoregulation under Aeromonas veronii infection.
Yi, C., Lv, X., Chen, D.-D., Sun, B., Guo, L., Wang, S.-D., Ru, Y., Wang, H., & Zeng, Q.-F. (2020) · Ecotoxicology and Environmental Safety · doi:10.1016/j.ecoenv.2020.111503 · Cited by 26
The relevance of a low JAK2V617F allele burden in clinical practice: a monocentric study
Perricone, M., Polverelli, N., Martinelli, G., Catani, L., Ottaviani, E., Zuffa, E., Franchini, E., Dizdari, A., Forte, D., Sabattini, E., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.16744 · Cited by 27
Targeting glutamine metabolism in myeloproliferative neoplasms
Zhan, H., Ciano, K., Dong, K., & Zucker, S. (2015) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2015.07.007 · Cited by 27
A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations
Janiszewska, H., Bąk, A., Pilarska, M., Heise, M., Junkiert-Czarnecka, A., Kuliszkiewicz‐Janus, M., Całbecka, M., JaŸwiec, B., Wołowiec, D., Kuliczkowski, K., et al. (2012) · Haematologica · doi:10.3324/haematol.2011.049494 · Cited by 26
“(21), and cases with suspicion of homozygosity were examined by sequencing analysis.”
Method
Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutation.
Wolstencroft, E., Hanlon, K., Harries, L., Standen, G., Sternberg, A., & Ellard, S. (2007) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2007.060083 · Cited by 25
Different involvement of the megakaryocytic lineage by the JAK2V617F mutation in Polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis
Hussein, K., Brakensiek, K., Buesche, G., Buhr, T., Wiese, B., Kreipe, H., & Bock, O. (2007) · Annals of Hematology · doi:10.1007/s00277-007-0252-3 · Cited by 25
“Proliferation of atypical, variably clustered megakaryocytes represents a histopathological key feature in the bone marrow from Philadelphia-chromosome negative (Ph−) CMPDs [6], and megakaryocyte-derived fibrogenic cytokines are held responsible for the development of MF [7, 8].”
Background
Elevated serum erythropoietin levels in patients with Budd‐Chiari syndrome secondary to polycythemia vera: clinical implications for the role of JAK2 mutation analysis
Thurmes, P. J., & Steensma, D. P. (2006) · European Journal of Haematology · doi:10.1111/j.1600-0609.2006.00667.x · Cited by 25
“JAK2 V617F is absent in SE and in healthy controls (9, 10, 13, 15), suggesting it is highly specific for CMPD.”
Background
Diagnostic assays for the JAK2 V617F mutation in chronic myeloproliferative disorders.
Greiner, T. (2006) · American Journal of Clinical Pathology · doi:10.1309/nxxt-grcx-d0tm-a3c2 · Cited by 25
Critical analysis of the potential for targeting STAT3 in human malignancy
Grandis, J., & Peyser (2013) · OncoTargets and Therapy · doi:10.2147/ott.s47903 · Cited by 24
“Similar results have been found for other kinase domain mutations, including the wellstudied JAK2 mutation V617F, which is primarily found in myeloproliferative disorders.(52,53) Activation of JAK2 caused by this mutation leads to constitutive activation of STAT3 and is associated with reduced survival in idiopathic m…”
Resveratrol selectively induces apoptosis in malignant cells with the JAK2V617F mutation by inhibiting the JAK2 pathway.
Trung, L. Q., Espinoza, J., An, D. T., Nguyen, V. H., Shimoda, K., & Nakao, S. (2015) · Molecular Nutrition & Food Research · doi:10.1002/mnfr.201500166 · Cited by 24

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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