Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
Open accessAbstract
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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Activation of JAK2 caused by the V617F mutation leads to constitutive activation of STAT3 and is associated with reduced survival in idiopathic myelofibrosis.
“Activation of JAK2 caused by this mutation leads to constitutive activation of STAT3 and is associated with reduced survival in idiopathic myelofibrosis.54,55”
From Critical analysis of the potential for targeting STAT3 in human malignancy (2013) · cites this paper as [52]
The Discussion (page not supplied) says V617F has been shown to constitutively activate JAK2. The Introduction mentions STAT3 activation in some patients with myeloproliferative disorders, but does not link it specifically to V617F; the paper also does not report reduced survival in idiopathic myelofibrosis. (LLM, conf=0.88)
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“Although most patients with PV are JAK2V617F positive when assessed using appropriately sensitive allele-specific assays, a small proportion of patients with PV are negative for the JAK2V617F allel”
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“Authors: Peter J Campbell * (1); E Joanna Baxter * (1); Philip A Beer (1); Linda M Scott (1); Anthony J Bench (2); Brian JP Huntly (1); Wendy N Erber (2); Rajko Kusec (3); Thomas Stauffer Larsen (4); Stéphane Giraudier (5); Marie-Caroline Le Bousse-Kerdilès (6); Martin Griesshammer (7); John T Reilly (8); Betty Y Cheu…”
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“…the study cohort and the observed incidence was similar to those cited by previous studies with smaller number of cases; 32% (n ¼ 115) (Levine et al, 2005), 23% (n ¼ 93) (Kralovics et al, 2005), 41% (n ¼ 59) (Jones et al, 2005), 57% (n ¼ 51) (Baxter et al, 2005), 43% (n ¼ 21) (James et al, 2005).”
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“Samples were genotyped using a tetra-primer sequence-specific assay, a method that uses two primer pairs to specifically amplify the normal and mutant sequences plus a positive control in a single reaction (36) using sequence-specific primer PCR methodology (SSP– PCR) (37).”
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The clinical phenotype of wild‐type, heterozygous, and homozygous JAK2V617F in polycythemia vera
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“Conversely, JAK2 homozygosity is relatively frequent in patients with PV (approximately 25–33%), although it seldom occurs in other MPD patients.(6,7) Such observations warrant a closer examination of the clinical phenotype that is associated with different JAK2 mutational profiles in patients with PV.”
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“22 Of note, patients with FIP1L1-PDGFRA -associated MPN are also not known to co-express JAK2 V617F”
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“The mutation is also found in 30–60% of ET and CIMF patients, but is rarely found outside MPD [17–19].”
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“Subsequently, the mutation has been demonstrated in other myeloid disorders including atypical MPDs (mutational frequency 20%) and myelodysplastic syndrome (mutational frequency < 5%).(51,52) In vitro, JAK2V617F transforms cell lines by promoting JAK-STAT–mediated growth factor independency and/ or hypersensitivity.”
BackgroundTransgenic expression of JAK2V617F causes myeloproliferative disorders in mice.
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“Studies also demonstrated infrequent occurrence of this mutation in chronic myelomonocytic leukemia, atypical myeloproliferative disorders, myelodysplastic syndrome, systemic mastocytosis, chronic neutrophilic leukemia, and acute myeloid leukemia (15-19).”
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“09 BM CD19 cells (%) 9 (9-10) 18 (15-21) 14 (8-22) ns ns BM CD90 cells (%) 8 (7-8) 6 (3-9) 6 (4-8) ns ns Spleen Gr-1 cells (%) 15 (13-17) 7 (6-9) 56 (45-66) 0.”
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“Analysis of JAK2 V617F mutations in patients Combining the AS-PCR, sequencing, and LTPMA allowed for sensitive detection of the JAK2 V617F mutation in DNA derived from the bone marrow of patients with CMPD (90%, 55%, and 57% of patients with PV, CIMF, and ET, respectively).”
BackgroundInfluentialQuinlan, S., Pfeiffer, R., Morton, L. M., & Engels, E. (2011) · American journal of hematology/oncology · doi:10.1002/ajh.21911 · Cited by 198 · see citing works
Delhommeau, F., Dupont, S., Tonetti, C., Massé, A., Godin, I., Couedic, J. P. L., Debili, N., Saulnier, P., Casadevall, N., Vainchenker, W., et al. (2006) · Blood · doi:10.1182/blood-2006-03-007146 · Cited by 177 · see citing works
“2-5 However, this stem origin of the malignant clone has only been demonstrated in CML by the detection of either the characteristic t(9;22) translocation or the BCR/ABL transcript in all hematopoietic lineages by fluorescent in situ hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR) tec…”
BackgroundGotlib, J. (2017) · American journal of hematology/oncology · doi:10.1002/ajh.24880 · Cited by 187 · see citing works
“For example, rare patients with hypereosinophilia have been found to carry the JAK2 V617F activating mutation.(50,170,171) More germane to eosinophil biology is the finding that the JAK2 pathway mediates antiapoptosis signals in eosinophils in response to GM-CSF and IL-5,(172,173) in addition to FIP1L1-PDGFRa.”
BackgroundDevelopment of ET, primary myelofibrosis and PV in mice expressing JAK2 V617F
Shide, K., Shimoda, H. K., Kumano, T., Karube, K., Kameda, T., Takenaka, K., Oku, S., Abe, H., Katayose, K., Kubuki, Y., et al. (2008) · Leukemia · doi:10.1038/sj.leu.2405043 · Cited by 184
Meggendorfer, M., Bacher, U., Alpermann, T., Haferlach, C., Kern, W., Gambacorti-Passerini, C. B., Haferlach, T., & Schnittger, S. (2013) · Leukemia · doi:10.1038/leu.2013.133 · Cited by 181 · see citing works
The HIF pathway and erythrocytosis
Lee, F. S., & Percy, M. J. (2011) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-011110-130321 · Cited by 177 · see citing works
Orazi, A., & Germing, U. (2008) · Leukemia · doi:10.1038/leu.2008.119 · Cited by 178 · see citing works
Oncogenes in Myeloproliferative Disorders
Tefferi, A., & Gilliland, D. G. (2007) · Cell Cycle · doi:10.4161/cc.6.5.3919 · Cited by 158 · see citing works
The JAK2 exon 12 mutations: A comprehensive review
Scott, L. M. (2011) · American Journal of Hematology · doi:10.1002/ajh.22063 · Cited by 168 · see citing works
JAK2 V617F tyrosine kinase mutation in cell lines derived from myeloproliferative disorders
Quentmeier, H., MacLeod, R., Zaborski, M., & Drexler, H. (2006) · Leukemia · doi:10.1038/sj.leu.2404081 · Cited by 170
Michiels, J., Berneman, Z., Schroyens, W., Finazzi, G., Budde, U., & van Vliet, H. V. (2006) · Seminars in Thrombosis and Hemostasis · doi:10.1055/s-2006-949664 · Cited by 169
JAK2(V617F): Prevalence in a large Chinese hospital population.
Xu, X., Zhang, Q., Luo, J., Xing, S., Li, Q.-S., Krantz, S., Fu, X.-Q., & Zhao, Z. (2007) · Blood · doi:10.1182/blood-2006-03-009472 · Cited by 169 · see citing works
Molecular basis of the diagnosis and treatment of polycythemia vera and essential thrombocythemia.
Schafer, A. (2006) · Blood · doi:10.1182/blood-2005-08-3526 · Cited by 166 · see citing works
“Several lines of evidence indicate that JAK2-V617F has a causal or contributory role in the pathogenesis of the MPDs and is not simply a passenger mutation that arose coincidentally in the same stem cell.”
BackgroundResultInfluentialShomali, W. E., & Gotlib, J. R. (2021) · American Journal of Hematology · doi:10.1002/ajh.26352 · Cited by 183 · see citing works
“For example, rare patients with HE have been found to carry the JAK2 V617F activating mutation.(73,210,211) More germane to eosinophil biology is the finding that the JAK2-STAT pathway mediates antiapoptosis signals in eosinophils in response to GM-CSF and IL-5(212,213) in addition to FIP1L1-PDGFRα.”
BackgroundReinwald, M., Silva, J. T., Mueller, N. J., Fortün, J., Garzoni, C., de Fijter, J. W., Fernández‐Ruiz, M., Grossi, P., & Aguado, J. M. (2018) · Clinical Microbiology and Infection · doi:10.1016/j.cmi.2018.02.009 · Cited by 178 · see citing works
“In haematobiologic diseases, the V617F activating mutation in the JAK2 gene has been identified as one of the major hallmarks in the pathogenesis of myeloproliferative neoplasms and has been identified in up to 95% of patients with polycythaemia vera (PV) and in 50% to 60% of patients with myelofibrosis and essential…”
BackgroundShomali, W. E., & Gotlib, J. R. (2019) · American Journal of Hematology · doi:10.1002/ajh.25617 · Cited by 190 · see citing works
“example, rare patients with hypereosinophilia have been found to carry the JAK2 V617F activating mutation.(58,183,184) More germane to”
BackgroundCheung, B., Radia, D., Pantelidis, P., Yadegarfar, G., & Harrison, C. (2006) · British Journal of Haematology · doi:10.1111/j.1365-2141.2005.05858.x · Cited by 156
“…in the JAK2 gene in the Philadelphia-negative myeloproliferative disorders, including polycythaemia vera (PV), essential thrombocythaemia (ET) and myelofibrosis with myeloid metaplasia (MMM) (Baxter et al, 2005; James et al, 2005; Jones et al, 2005; Kralovics et al, 2005; Levine et al, 2005).”
BackgroundSteensma, D., Mcclure, R., Karp, J., Tefferi, A., Lasho, T., Powell, H. L., Dewald, G., & Kaufmann, S. (2006) · Leukemia · doi:10.1038/sj.leu.2404206 · Cited by 154
Portal vein thrombosis, revisited
Primignani, M. (2010) · Digestive and Liver Disease · doi:10.1016/j.dld.2009.08.003 · Cited by 146 · see citing works
Wernig, G., Gonneville, J. R., Crowley, B. J., Rodrigues, M. S., Reddy, M., Hudon, H. E., Walz, C., Reiter, A., Podar, K., Royer, Y., et al. (2008) · Blood · doi:10.1182/blood-2007-07-102186 · Cited by 145 · see citing works
How I treat patients with polycythemia vera.
Finazzi, G., & Barbui, T. (2007) · Blood · doi:10.1182/blood-2006-12-038968 · Cited by 145
Detection of JAK2 V617F as a first intention diagnostic test for erythrocytosis
James, C., Delhommeau, F., Marzac, C., Teyssandier, I., Couédic, J. L., Giraudier, S., Roy, L., Saulnier, P., Lacroix, L., Maury, S., et al. (2006) · Leukemia · doi:10.1038/sj.leu.2404069 · Cited by 144 · see citing works
“JAK2 V617F was also detected in 30p of ET, 50p of IMF, and some rare uncharacterized MPD”
BackgroundWautier, M., Nemer, W. E., Gane, P., Rain, J., Cartron, J., Colin, Y., Kim, C. L. V., & Wautier, J. (2007) · Blood · doi:10.1182/blood-2006-10-048298 · Cited by 141
Dahabreh, I., Zoi, K., Giannouli, S., Zoi, C., Loukopoulos, D., & Voulgarelis, M. (2009) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2008.06.006 · Cited by 141 · see citing works
“[1] Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al.”
BackgroundVainchenker, W., & Constantinescu, S. (2005) · Hematology. American Society of Hematology. Education Program · doi:10.1182/asheducation-2005.1.195 · Cited by 140 · see citing works
“By contrast, the mutation was not detected in AML, except for AML secondary to an MPD or megakaryocytic leukemia.(32,33) Thus, the presence of JAK2 V617F mutation provides a means of developing a new classification of MPDs that includes the majority of PV cases, a large fraction of cases of IMF and some cases of ET (t…”
BackgroundMyeloproliferative neoplasms: contemporary diagnosis using histology and genetics
Tefferi, A., Skoda, R. C., & Vardiman, J. W. (2009) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2009.149 · Cited by 131 · see citing works
“Since then, the mutation has also been noted in other myeloid neoplasms”
BackgroundJames, C., Ugo, V., Casadevall, N., Constantinescu, S., & Vainchenker, W. (2005) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2005.10.003 · Cited by 137
Minimal molecular response in polycythemia vera patients treated with imatinib or interferon alpha.
Jones, A., Silver, R., Waghorn, K., Curtis, C., Kreil, S., Zoi, K., Hochhaus, A., Oscier, D., Metzgeroth, G., Lengfelder, E., et al. (2005) · Blood · doi:10.1182/blood-2005-09-3917 · Cited by 132 · see citing works
“To quantify the level of disease we employed pyrosequencing, which measures the proportion of mutant alleles.(17) As shown in Figure 1a, we found that the median percentage of mutated JAK2 alleles (%V617F) did not differ significantly between the imatinib treated cases (median 59%, range 8-91) and the V617F positive c…”
Self-citationMoliterno, A., Williams, D., Rogers, O., & Spivak, J. (2006) · Blood · doi:10.1182/blood-2006-03-008805 · Cited by 126
Mcclure, R., Mai, M., & Lasho, T. (2006) · Leukemia · doi:10.1038/sj.leu.2404007 · Cited by 126
Tefferi, A., & Gilliland, D. G. (2005) · Mayo Clinic Proceedings · doi:10.4065/80.7.947 · Cited by 119 · see citing works
Janus kinase deregulation in leukemia and lymphoma
Chen, E., Staudt, L. M., & Green, A. R. (2012) · Immunity · doi:10.1016/j.immuni.2012.03.017 · Cited by 123 · see citing works
“(Jelinek et al., 2005; Jones et al., 2005; Levine et al., 2005a; Scott et al., 2005; Steensma et al., 2005).”
Extrahepatic Portal Vein Thrombosis
García-Pagán, J., Hernández-Guerra, M., & Bosch, J. (2008) · Seminars in liver disease (Print) · doi:10.1055/s-0028-1085096 · Cited by 122
Chaligné, R., Tonetti, C., Besancenot, R., Roy, L., Marty, C., Mossuz, P., Kiladjian, J., Socié, G., Bordessoule, D., Bousse-Kerdilès, M. L., et al. (2008) · Leukemia · doi:10.1038/leu.2008.137 · Cited by 121 · see citing works
Looyenga, B. D., Hutchings, D., Cherni, I., Kingsley, C., Weiss, G. J., & MacKeigan, J. P. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030820 · Cited by 120 · see citing works
“Unlike hematologic malignancies, however, activating mutations to JAK family kinases are rarely found in epithelial-derived solid tumors [38,39].”
BackgroundMarkers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia.
Teofili, L., Giona, F., Martini, M., Cenci, T., Guidi, F., Torti, L., Palumbo, G., Amendola, A., Foà, R., & Larocca, L. (2007) · Journal of Clinical Oncology · doi:10.1200/jco.2006.08.6884 · Cited by 114 · see citing works
Shomali, W. E., & Gotlib, J. R. (2024) · American Journal of Hematology · doi:10.1002/ajh.27287 · Cited by 122 · see citing works
Pathophysiology of anemia and erythrocytosis
Hodges, V. M., Rainey, S., Lappin, T. R. J., & Maxwell, A. P. (2007) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2007.06.006 · Cited by 107 · see citing works
“[201] Jones AV, Kreil S, Zoi K, et al.”
BackgroundProtein kinases: drug targets for immunological disorders
Castelo‐Soccio, L. A., Kim, H., Gadina, M., Schwartzberg, P. L., Laurence, A. D. J., & O’Shea, J. J. (2023) · Nature reviews. Immunology · doi:10.1038/s41577-023-00877-7 · Cited by 125 · see citing works
“to 90% (primary polycythemia vera) of cases 62–64 (Table 1); thus, rux-olitinib was originally designed as a JAK2 inhibitor.”
BackgroundClassification, diagnosis and management of myeloproliferative disorders in the JAK2V617F era.
Tefferi, A. (2006) · Hematology. American Society of Hematology. Education Program · doi:10.1182/asheducation-2006.1.240 · Cited by 111 · see citing works
“The method is suitable for quantitative measurements and can distinguish homozygous from heterozygous mutation pattern, and assay sensitivity is estimated at 5%.(7)”
MethodBench, A. J., White, H., Foroni, L., Godfrey, A. L., Gerrard, G., Akiki, S. J., Awan, A., Carter, I. W. J., Goday‐Fernández, A., Langabeer, S. E., et al. (2012) · British Journal of Haematology · doi:10.1111/bjh.12075 · Cited by 94 · see citing works
“E-mail: anthony.bench@addenbrookes.nhs.uk ª 2012 Blackwell Publishing Ltd First published online 11 October 2012 British Journal of Haematology, 2013, 160, 25–34 doi:10.1111/bjh.12075 guideline leukaemia and acute myeloid leukaemia (Jones et al, 2005; Levine et al, 2005b).”
BackgroundInfluentialEvidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis.
Chaligné, R., James, C., Tonetti, C., Besancenot, R., Couédic, J. L., Fava, F., Mazurier, F., Godin, I., Maloum, K., Larbret, F., et al. (2007) · Blood · doi:10.1182/blood-2007-05-089003 · Cited by 109 · see citing works
Williams, D., Kim, A. H., Rogers, O., Spivak, J., & Moliterno, A. (2007) · Experimental Hematology · doi:10.1016/j.exphem.2007.08.010 · Cited by 109
“% female 61% 60% Median age at diagnosis (range) 49 (18-74) 50 (18-67) Median disease duration (years, range) 8 (1-28) 6 (3-54) Antecedent ET history 21% 20% Family MPD history 8% 20% Palpable splenomegaly 43% 50% White cell count (K/cu mm) 11.”
BackgroundInfluentialMouse models of myeloproliferative neoplasms: JAK of all grades
Li, J., Kent, D. G., Chen, E., & Green, A. R. (2011) · Disease Models & Mechanisms · doi:10.1242/dmm.006817 · Cited by 97 · see citing works
“In 2005, several groups reported a somatically acquired gain-of-function mutation (V617F) in the JAK2 tyrosine kinase in MPN patients (Baxter et al., 2005; James et al., 2005; Jones et al., 2005; Kralovics et al., 2005; Levine et al., 2005; Zhao et al., 2005).”
BackgroundIdentification of somatic JAK1 mutations in patients with acute myeloid leukemia.
Xiang, Z.-F., Zhao, Y., Mitaksov, V., Fremont, D., Kasai, Y., Molitoris, A., Ries, R., Miner, T., McLellan, M., Dipersio, J., et al. (2008) · Blood · doi:10.1182/blood-2007-05-090308 · Cited by 108 · see citing works
“Direct evidence for aberrant JAK activation in human tumorigenesis was first confirmed by the cloning of the t(9;12) translocation breakpoint in acute lymphocytic leukemia, and the identification of the TEL-JAK2 fusion protein(6).”
BackgroundWadleigh, M., & Tefferi, A. (2010) · International Journal of Hematology · doi:10.1007/s12185-010-0529-5 · Cited by 101 · see citing works
“The JAK2V617F mutation is found in more than 90% of patients with PV, and in nearly one-half of those with ET and PMF [ 20 , 37].”
BackgroundStein, B., Williams, D., O'Keefe, C., Rogers, O., Ingersoll, R., Spivak, J., Verma, A., Maciejewski, J., Mcdevitt, M. A., & Moliterno, A. (2011) · Haematologica · doi:10.3324/haematol.2011.045591 · Cited by 104
“Post-PV-MF 14 43 63 (51-78) 14(2-37) 100 90 5 (36%) 0 5 (36%)”
InfluentialPathogenesis and Consequences of Uniparental Disomy in Cancer
Makishima, H., & Maciejewski, J. P. (2011) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-10-2900 · Cited by 100 · see citing works
“demonstrated that JAK2V617F mutations with UPD9p can also be found in other myeloproliferative neoplasms (MPNs) (17, 18).”
Frequent occurrence of uniparental disomy in colorectal cancer
Andersen, C. L., Wiuf, C., Kruhøffer, M., Korsgaard, M., Laurberg, S., & Orntoft, T. F. (2006) · Carcinogenesis · doi:10.1093/carcin/bgl086 · Cited by 105 · see citing works
“located within the lost region[32-34].”
Brümmendorf, T. H., & Balabanov, S. (2006) · Leukemia · doi:10.1038/sj.leu.2404339 · Cited by 94 · see citing works
Ingram, W., Lea, N., Cervera, J., Germing, U., Fenaux, P., Cassinat, B., Kiladjian, J., Várkonyi, J., Antunović, P., Westwood, N., et al. (2006) · Leukemia · doi:10.1038/sj.leu.2404215 · Cited by 101
Tefferi, A., Sirhan, S., Lasho, T., Schwager, S., Li, C.-Y., Dingli, D., Wolanskyj, A. P., Steensma, D., Mesa, R., & Gilliland, D. (2005) · British Journal of Haematology · doi:10.1111/j.1365-2141.2005.05743.x · Cited by 100
“(Baxter et al, 2005; James et al, 2005; Jones et al, 2005; Kralovics et al, 2005; Levine et al, 2005) and less frequently in chronic myelomonocytic leukaemia, myelodysplastic syndrome, systemic mastocytosis, chronic neutrophilic leukaemia, eosinophilic disorders and atypical MPD (Jelinek et al,…”
BackgroundInfluentialGenetic complexity of myeloproliferative neoplasms
Kralovics, R. (2008) · Leukemia · doi:10.1038/leu.2008.233 · Cited by 98 · see citing works
Thiele, J., & Kvasnicka, H. (2006) · Annals of Hematology · doi:10.1007/s00277-005-0042-8 · Cited by 98
“However, amongst the recent publications, a significant and disturbingly different range concerning the incidence of the JAK2 mutation was reported with about 35–57% in CIMF and 23–57% in ET [6, 27 , 29, 35].”
BackgroundMethodPercy, M. J., Scott, L. M., Erber, W. N., Harrison, C. N., Reilly, J. T., Jones, F. G. C., Green, A. R., & McMullin, M. F. (2007) · Haematologica · doi:10.3324/haematol.11643 · Cited by 85 · see citing works
Steensma, D. (2006) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2006.060007 · Cited by 97
“Pyrosequencing of JAK2 using the automated PSQ HS 96 system (Biotage, Uppsala, Sweden) has been attempted by several groups,(21,35) with dilution experiments similar to those described above showing a reported assay sensitivity of 5 to 10% mutant allele in a wild-type background.(21,35) These same groups used the pyro…”
BackgroundMethodInfluentialMughal, T. I., Cross, N. C. P., Padron, E., Tiu, R. V., Savona, M. R., Malcovati, L., Tibes, R., Komrokji, R. S., Kiladjian, J., Garcia-Manero, G., et al. (2015) · Haematologica · doi:10.3324/haematol.2014.114660 · Cited by 100 · see citing works
Kim, S. Y., Im, K., Park, S. N., Kwon, J., Kim, J., & Lee, D. S. (2015) · American Journal of Clinical Pathology · doi:10.1309/ajcpuaac16liwzmm · Cited by 92 · see citing works
“3 ) [11 ] /45 ,XX,de r (1 ) t(1;?3),del(3)(p?21p25), −5,add(19)[4]/46,XX,der(1) t(1;?3),−5,add(19)(q10),+22,mar[3]/46,XX[3]) and was tested for cytogenetic abnormalities after progression to the accelerated phase with 9.”
Background
- 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
- 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 › Genetics › 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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