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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 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]
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Cited by
Sorted by citations
Items 101–200 of 762
Moliterno, A., Williams, D., Rogers, O., Isaacs, M., & Spivak, J. (2008) · Experimental Hematology · doi:10.1016/j.exphem.2008.05.006 · Cited by 94
“JAK2 mutation, the expression of which is largely confined to PV, PMF, and ET [24,25].”
BackgroundThe role of Janus kinases in haemopoiesis and haematological malignancy
Khwaja, A. (2006) · British Journal of Haematology · doi:10.1111/j.1365-2141.2006.06206.x · Cited by 101
“…(2005) 74 25 164 PCR sequencing Levine et al (2005a) 97 26 73 AS-PCR Baxter et al (2005) 83 ND 24 PCR sequencing Zhao et al (2005) 81 33 72 ARMS-PCR Jones et al (2005) 95 26 38 PCR sequencing Tefferi et al (2005b) 86 ND 29 Pyrosequencing Jelinek et al (2005) 92 ND 25 Real time AS-PCR Passamonti et…”
BackgroundMethodJAK and MPL mutations in myeloid malignancies
Tefferi, A. (2008) · Leukemia and Lymphoma · doi:10.1080/10428190801895360 · Cited by 92
“Subsequently, the mutation has also described in other myeloid neoplasms [64,65].”
BackgroundWalz, C., Metzgeroth, G., Haferlach, C., Schmitt-Graeff, A., Fabarius, A., Hagen, V., Prümmer, O., Rauh, S., Hehlmann, R., Hochhaus, A., et al. (2007) · Haematologica · doi:10.3324/haematol.10980 · Cited by 91
Genetics of Myeloproliferative Neoplasms
Viny, A. D., & Levine, R. L. (2014) · The Cancer Journal · doi:10.1097/ppo.0000000000000013 · Cited by 60
“Akin to the Philadelphia chromosome in CML, discovery studies in 2005 identified the JAK2 V617F mutation in the overwhelming majority of patients with polycythemia vera (PV) as well as 40% to 60% of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF).(5,8,9) Such mutations have been termed ‘‘cl…”
BackgroundInfluentialBorowczyk, M., Wojtaszewska, M. L., Lewandowski, K., Gil, L., Lewandowska, M., Lehmann-Kopydłowska, A., Kroll‐Balcerzak, R., Balcerzak, A., Iwoła, M., Michalak, M., et al. (2014) · Thrombosis Research · doi:10.1016/j.thromres.2014.11.006 · Cited by 93
“Assessment of JAK2 V617F-positivity was conducted with amplification-refractory mutation system polymerase chain reaction (ARMS-PCR) [21].”
MethodFunakoshi-Tago, M., Pelletier, S., Matsuda, T., Parganas, E., & Ihle, J. (2006) · EMBO Journal · doi:10.1038/sj.emboj.7601365 · Cited by 89
Anand, S., Stedham, F., Beer, P., Gudgin, E., Ortmann, C. A., Bench, A., Erber, W., Green, A., & Huntly, B. J. P. (2011) · Blood · doi:10.1182/blood-2010-12-327593 · Cited by 88
Inhibition of the Bcl-xL deamidation pathway in myeloproliferative disorders.
Zhao, R., Follows, G., Beer, P., Scott, L. M., Huntly, B. J. P., Green, A., & Alexander, D. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0804953 · Cited by 88
Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E
Schnittger, S., Bacher, U., Kern, W., Schröder, M., Haferlach, T., & Schoch, C. (2006) · Leukemia · doi:10.1038/sj.leu.2404325 · Cited by 88
Shallis, R. M., Wang, R., Davidoff, A. J., Ma, X., Podoltsev, N. A., & Zeidan, A. M. (2020) · Blood Reviews · doi:10.1016/j.blre.2020.100706 · Cited by 91
Gondek, L. P., Dunbar, A. J., Szpurka, H., McDevitt, M. A., & Maciejewski, J. P. (2007) · PLoS ONE · doi:10.1371/journal.pone.0001225 · Cited by 83
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“The recurrent involvement of tyrosine kinase-encoding genes at translocation breakpoints has led to searches for other, cryptic abnormalities of these genes, and currently the most commonly known abnormality in aCML is the V617F JAK2 mutation (Jones et al., 2005).”
BackgroundJAK/STAT pathway dysregulation in tumors: A Drosophila perspective
Amoyel, M., Anderson, A. M., & Bach, E. A. (2014) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2014.03.023 · Cited by 94
“Activating mutations in JAK/STAT signaling are causal events in human leukemia, myeloproliferative neoplasms (MPNs) and solid tumors [1–5].”
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“Detection of JAK2V617F mutations was performed by the ARMS technique and mutations of TET2, EZH2, exon 4 of IDH1 (mutational hotspot at R132) and exon 4 of IDH2 (mutational hotspots at R140 and R172) by direct sequencing as previously described [5,12,19,20,21].”
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“JAK2 V617F expression has also been observed at a very low frequency in various other clonal myeloid disorders (24, 27, 28), but with the exception of a subgroup of patients with sideroblastic anemia and thrombocytosis (29), none display elements of the clinical phenotype associated with JAK2 V617F expression in polyc…”
BackgroundProia, D. A., Foley, K. P., Korbut, T., Sang, J., Smith, D., Bates, R. C., Liu, Y., Rosenberg, A. F., Zhou, D., Koya, K., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018552 · Cited by 76
“In particular, an activating point mutation in JAK2 (JAK2V617F) has been described with high frequency in chronic myeloproliferative disorders (MPD) [5,6,7,8,9,10] and constitutive JAK2 activation caused by chromosomal translocations has been reported in various types of leukemia [11,12,13].”
BackgroundAML1/RUNX1 point mutation possibly promotes leukemic transformation in myeloproliferative neoplasms.
Ding, Y., Harada, Y., Imagawa, J., Kimura, A., & Harada, H. (2009) · Blood · doi:10.1182/blood-2009-06-223982 · Cited by 83
Molecular diagnostics of myeloproliferative neoplasms
Langabeer, S. E., Andrikovics, H., Asp, J., Bellosillo, B., Carillo, S., Haslam, K., Kjær, L., Lippert, É., Mansier, O., Leibundgut, E. O., et al. (2015) · European Journal Of Haematology · doi:10.1111/ejh.12578 · Cited by 84
“Subsequent studies confirmed the presence of this mutation in the majority of PV cases, in up to 60% of ET and PMF patients, and at a lower frequency in other myeloid malignancies such as myelodysplastic syndromes (MDS), particularly refractory anaemia with ringed sideroblasts with marked thrombocytosis (RARS-T), and…”
BackgroundSchwaab, J., Knut, M., Haferlach, C., Metzgeroth, G., Horny, H., Chase, A., Tapper, W., Score, J., Waghorn, K., Naumann, N., et al. (2014) · Annals of Hematology · doi:10.1007/s00277-014-2221-y · Cited by 82
“The JAK1/JAK2 inhibitor ruxolitinib was developed following the identification of constitutively dysregulated JAK/STAT signaling in myeloproliferative neoplasms (MPN) frequently caused by mutations in JAK2 and MPL [1].”
BackgroundInfluentialMurugesan, G., Aboudola, S., Szpurka, H., Verbic, M. A., Maciejewski, J., Tubbs, R., & Hsi, E. (2006) · American Journal of Clinical Pathology · doi:10.1309/tk0xl917xk2vlrpq · Cited by 81
Aberrant cytokine signaling in leukemia
Etten, R. A. V. (2007) · Oncogene · doi:10.1038/sj.onc.1210758 · Cited by 108
“The mutation is also found in 40–60% of patients with essential thrombocythemia (ET) and chronic idiopathic myelofibrosis (CIMF), but is rarely found outside MPD (Jones et al., 2005; Scott et al., 2005; Steensma et al., 2005).”
BackgroundJAK2-V617F mutation in a patient with Philadelphia-chromosome-positive chronic myeloid leukaemia.
Krämer, A., Reiter, A., Kruth, J., Erben, P., Hochhaus, A., Müller, M. C., Cross, N., Jones, A., Ho, A., & Hensel, M. (2007) · The Lancet Oncology · doi:10.1016/s1470-2045(07)70206-1 · Cited by 80
Self-citationThiele, J., & Kvasnicka, H. (2009) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-009-0005-6 · Cited by 80
“In the diagnostic algorithm shown in Table 1, the most valuable criterion of the molecular markers is the JAK2V617F mutation status, which is positive in nearly all patients [7,14, 15 ], or other functionally similar aberrations, such as JAK2 exon 12 mutation [6,7].”
MethodJAK2 inhibitors: What's the true therapeutic potential?
Santos, F. P. D. S., & Verstovšek, S. (2010) · Blood Reviews · doi:10.1016/j.blre.2010.10.004 · Cited by 72
“Patients may be heterozygous or homozygous for the JAK2 V617F mutation, and homozygosity is frequently acquired by uniparental disomy of chromosome 9p, where the JAK2 gene locates (67).”
BackgroundNeutrophil-specific antigen HNA-2a, NB1 glycoprotein, and CD177
Stroncek, D. (2007) · Current opinion in hematology · doi:10.1097/moh.0b013e3282efed9e · Cited by 78
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“For example, Shaw et al. (10) regard values of 0%–5% methylation as background noise and Jones et al. ( 25 ) defined a threshold of detection of 5% for their JAK2 genotyping assay because they found residual wild-type signals of 5% in nearly all of their homozygous cases.”
BackgroundGale, R., Allen, A., Nash, M., & Linch, D. (2007) · Blood · doi:10.1182/blood-2006-06-029769 · Cited by 77
A Novel Model for IFN-γ–Mediated Autoinflammatory Syndromes
Reinhardt, R. L., Liang, H.-E., Bao, K., Price, A. E., Mohrs, M., Kelly, B. L., & Locksley, R. M. (2015) · The Journal of Immunology · doi:10.4049/jimmunol.1401992 · Cited by 74
Characterization of BMS-911543, a functionally selective small-molecule inhibitor of JAK2
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Self-citationMutational screen reveals a novel JAK2 mutation, L611S, in a child with acute lymphoblastic leukemia
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Transcription factor mutations in myelodysplastic/myeloproliferative neoplasms
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Chronic myeloproliferative disorders: a tyrosine kinase tale
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Role of JAK-STAT signaling in the pathogenesis of myeloproliferative disorders.
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STAT1 and STAT3 in Tumorigenesis: Two Sides of the Same Coin?
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JAK-STAT in Early Hematopoiesis and Leukemia
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The JAK-STAT pathway and hematopoietic stem cells from the JAK2 V617F perspective
Staerk, J., & Constantinescu, S. N. (2012) · JAK-STAT · doi:10.4161/jkst.22071 · Cited by 68
Management of Philadelphia negative chronic myeloproliferative disorders in pregnancy.
Griesshammer, M., Struve, S., & Barbui, T. (2008) · Blood reviews · doi:10.1016/j.blre.2008.03.007 · Cited by 71
Myelodysplastic syndromes: molecular pathogenesis and genomic changes
Nolte, F., & Hofmann, W.-K. (2008) · Annals of Hematology · doi:10.1007/s00277-008-0502-z · Cited by 79
JAK2 mutations across a spectrum of venous thrombosis cases.
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“Several techniques have been applied for the detection of he mutation, as genomic DNA-PCR-sequencing [2,3,7,14], T-PCR-sequencing [4], PCR-ARMS (amplification refracory mutation system) [6], allele-specific PCR [1,16], PCRestriction analysis [1,17], and real-time PCR [16]; these echniques are characterized by a differ…”
BackgroundMethodInfluentialRodrigues, M. S., Reddy, M. M., & Sattler, M. (2008) · Antioxidants and Redox Signaling · doi:10.1089/ars.2008.2071 · Cited by 58
“…leading to a V617F (Val617Phe) substitution in Jak2 has been reported in patients with polycythemia vera, essential thrombo-cythemia, idiopathic myelofibrosis, as well as in several myeloproliferative disorders, and infrequently in myelodysplastic syndromes (26, 172, 177, 197, 216, 350, 415).”
Heller, P. G., Lev, P. R., Salim, J. P., Kornblihtt, L. I., Goette, N. P., Chazarreta, C. D., Glembotsky, A. C., Vassallu, P. S., Marta, R. F., & Molinas, F. C. (2006) · European Journal Of Haematology · doi:10.1111/j.1600-0609.2006.00688.x · Cited by 60
“Although the reported prevalence of this molecular abnormality in ET varies according to published studies (5–7, 10–14), the frequency found in platelet RNA in our cohort is similar to that reported in granulocyte DNA by other authors (41–57%) (5, 10, 12, 13), using detection techniques which have similar sensitivity.”
BackgroundResultPérez, E. R. F., Olson, A. L., & Frankel, S. K. (2011) · Medical Clinics of North America · doi:10.1016/j.mcna.2011.08.006 · Cited by 26
Haan, C., Behrmann, I., & Haan, S. (2010) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2010.01018.x · Cited by 64
Rare occurrence of the JAK2 V617F mutation in AML subtypes M5, M6, and M7.
Fröhling, S., Lipka, D., Kayser, S., Scholl, C., Schlenk, R., Döhner, H., Gilliland, D., Levine, R., & Döhner, K. (2006) · Blood · doi:10.1182/blood-2005-09-3644 · Cited by 65
JAK2 in Myeloproliferative Disorders Is Not Just Another Kinase
Tefferi, A., & Gilliland, D. (2005) · Cell Cycle · doi:10.4161/cc.4.8.1872 · Cited by 65
Pradhan, A. R., Lambert, Q., & Reuther, G. (2007) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.0702388104 · Cited by 63
Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable
Zoi, K., & Cross, N. C. P. (2014) · International Journal of Hematology · doi:10.1007/s12185-014-1670-3 · Cited by 62
“[27, 36] and in almost 60 % of patients with RARS-T [38– 40].”
BackgroundPrevalence of clinical venous thromboembolism in the USA: Current trends and future projections
Deitelzweig, S., Johnson, B. H., Lin, J., & Schulman, K. (2011) · American journal of hematology/oncology · doi:10.1002/ajh.21917 · Cited by 62
Gustafson, S. A., Lin, P., Chen, S., Chen, L. L., Abruzzo, L., Luthra, R., Medeiros, L., & Wang, S. A. (2009) · American Journal of Clinical Pathology · doi:10.1309/ajcp5ethdxo6ncgz · Cited by 62
Phosphoproteomic analysis of AML cell lines identifies leukemic oncogenes.
Walters, D. K., Goss, V., Stoffregen, E. P., Gu, T., Lee, K. A., Nardone, J., McGreevey, L., Heinrich, M., Deininger, M., Polakiewicz, R., et al. (2006) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2006.01.001 · Cited by 62
Diagnosis and treatment of hypereosinophilic syndromes
Fletcher, S. H., & Bain, B. J. (2007) · Current Opinion in Hematology · doi:10.1097/00062752-200701000-00008 · Cited by 55
Prognosis in transplant‐eligible patients with agnogenic myeloid metaplasia
Dingli, D., Schwager, S., Mesa, R., Li, C.-Y., & Tefferi, A. (2006) · Cancer · doi:10.1002/cncr.21644 · Cited by 61
Fletcher (2009) · International Journal of Oncology · doi:10.3892/ijo_00000390 · Cited by 62
Homeodomain-Interacting Protein Kinases
Blaquiere, J. A., & Verheyen, E. M. (2016) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2016.10.002 · Cited by 62
A critical reappraisal of the WHO classification of the chronic myeloproliferative disorders
Thiele, J., & Kvasnicka, H. (2006) · Leukemia and Lymphoma · doi:10.1080/10428190500331329 · Cited by 59
“However, the detected JAK2 V617F mutation may represent a promising molecular target for inhibition of the JAK-STAT pathway [136] and, thus, for therapeutic interven- tion, at least in a subset of patients with MPDs [137,139,141].”
BackgroundInfluentialJAK2V617F mutational frequency in polycythemia vera: 100%, >90%, less?
Verstovsek, S., Silver, R., Cross, N. C. P., & Tefferi, A. (2006) · Leukemia · doi:10.1038/sj.leu.2404379 · Cited by 58
Schönfeld, L., Rinke, J., Hinze, A., Nagel, S. N., Schäfer, V., Schenk, T., Fabisch, C., Brümmendorf, T. H., Burchert, A., le Coutre, P., et al. (2022) · Leukemia · doi:10.1038/s41375-022-01648-4 · Cited by 57
“One of these mutations was the JAK2 V617F mutation in patient #76 which has been previously described as uncommon in CML [34].”
BackgroundGong, J. Z., Cook, J. R., Greiner, T. C., Hedvat, C. V., Hill, C. E., Lim, M. S., Longtine, J. A., Sabath, D. E., & Wang, Y. L. (2013) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2013.07.002 · Cited by 50
Moore, S., Hunter, R. W., Harper, M., Savage, J., Siddiq, S., Westbury, S., Poole, A., Mumford, A., & Hers, I. (2013) · Blood · doi:10.1182/blood-2012-05-431288 · Cited by 57
Clearance of circulating activated platelets in polycythemia vera and essential thrombocythemia.
Maugeri, N., Malato, S., Femia, E., Pugliano, M., Campana, L., Lunghi, F., Rovere-Querini, P., Lussana, F., Podda, G., Cattaneo, M., et al. (2011) · Blood · doi:10.1182/blood-2011-02-337337 · Cited by 57
JAK-2 mutations and their relevance to myeloproliferative disease
Levine, R. L., & Gilliland, D. G. (2007) · Current opinion in hematology · doi:10.1097/00062752-200701000-00009 · Cited by 57
JAK2 V617F in myeloid disorders: What do we know now, and where are we headed?
Nelson, M. E., & Steensma, D. P. (2005) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428190500301348 · Cited by 51
“in Southampton and Salisbury in the United Kingdom (with collaborators in Athens, Heidelberg and New York), respectively [29,30].”
BackgroundKIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance
Schwaab, J., Umbach, R., Metzgeroth, G., Naumann, N., Jawhar, M., Sotlar, K., Horny, H., Gaiser, T., Hofmann, W., Schnittger, S., et al. (2015) · American journal of hematology/oncology · doi:10.1002/ajh.24075 · Cited by 56
JAK2V617F Mutation in Patients with Splanchnic Vein Thrombosis
Xavier, S. G., Gadelha, T., Pimenta, G., Eugénio, A. M., Ribeiro, D. D., Gomes, F. M., Bonamino, M., Zalcberg, I., & Spector, N. (2010) · Digestive Diseases and Sciences · doi:10.1007/s10620-009-0933-y · Cited by 56
“[31].”
Haferlach, T., Bacher, U., Kern, W., Schnittger, S., & Haferlach, C. (2007) · Annals of Hematology · doi:10.1007/s00277-007-0403-6 · Cited by 56
“Finally, JAK2 might represent a target for specific compounds with anti-tyrosine kinase activity [2, 34].”
BackgroundLessons From Familial Myeloproliferative Disorders
Skoda, R. C., & Prchal, J. T. (2005) · Seminars in Hematology · doi:10.1053/j.seminhematol.2005.08.002 · Cited by 49
Bacher, U., Schnittger, S., Kern, W., Weiss, T., Haferlach, T., & Haferlach, C. (2009) · Annals of Hematology · doi:10.1007/s00277-009-0745-3 · Cited by 55
Zeuner, A., Pedini, F., Signore, M., Ruscio, G., Messina, C. G. M., Tafuri, A., Girelli, G., Peschle, C., & Maria, R. D. (2005) · Blood · doi:10.1182/blood-2005-07-3037 · Cited by 54
James, C. (2008) · Hematology. American Society of Hematology. Education Program · doi:10.1182/asheducation-2008.1.69 · Cited by 55
Rapado, I., Grande, S., Albízua, E., Ayala, R., Hernández, J., Gallardo, M., Gilsanz, F., & Martínez-López, J. (2009) · Journal of Molecular Diagnostics · doi:10.2353/jmoldx.2009.080110 · Cited by 54
“2) The method has an intermediate analytical sensitivity, around 1%.(4,15,17,19,20) In this sense, the HRM method is similar to the sensitivity of the ASO qPCR method which permits a potential for increasing the ability to detect mutations in PV and ET.”
MethodJAK2 Mutations are present in all cases of polycythemia vera
Wang, Y.-L., Vandris, K., Jones, A., Cross, N., Christos, P., Adriano, F., & Silver, R. (2008) · Leukemia · doi:10.1038/sj.leu.2405047 · Cited by 54
Self-citationThe evolving role of lenalidomide in the treatment of hematologic malignancies
Kastritis, E., & Dimopoulos, M. A. (2007) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.8.4.497 · Cited by 49
“The molecular pathogenesis of MMM has not been fully characterized, despite the recent discovery of an activating JAK2 mutation (JAK2 617V>F) that is found not only in ∼ 50% of patients with MMM, but also in most of those with either polycythemia vera or essential thrombocythemia [71,72].”
BackgroundGenome-wide Profiling in AML Patients Relapsing after Allogeneic Hematopoietic Cell Transplantation
Waterhouse, M., Pfeifer, D., Pantić, M., Emmerich, F., Bertz, H., & Finke, J. (2011) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2011.07.012 · Cited by 60
Hasselbalch, H. C., & Riley, C. H. (2006) · Leukemia Research · doi:10.1016/j.leukres.2005.12.018 · Cited by 43
“[135] Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, et al.”
BackgroundLaubach, J., Fu, P., Jiang, X.-H., Salter, K. H., Potti, A., & Arcasoy, M. (2009) · Experimental Hematology · doi:10.1016/j.exphem.2009.09.009 · Cited by 52
“The discovery of an acquired, somatic mutation JAK2V617F present within the gene encoding the cytoplasmic tyrosine kinase JAK2 detected in the majority (95%) of PV patients provided insight as to how the molecular and biological characteristics of the disease might relate to its clinical phenotype [6-11].”
BackgroundThe Role of Thrombophilia in Splanchnic Vein Thrombosis
Primignani, M., & Mannucci, P. (2008) · Seminars in liver disease (Print) · doi:10.1055/s-0028-1085097 · Cited by 52
JAK2 mutations in polycythemia vera--molecular mechanisms and clinical applications.
Tefferi, A. (2007) · New England Journal of Medicine · doi:10.1056/nejmp068293 · Cited by 52
Classification of chronic myeloid disorders: From Dameshek towards a semi-molecular system
Tefferi, A., & Gilliland, G. D. (2006) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2005.07.001 · Cited by 47
Tefferi, A. (2009) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2008.00559.x · Cited by 54
“Subsequently, the mutation has also described in other myeloid neoplasms [103, 119].”
BackgroundDeadmond, M. A., & Smith-Gagen, J. (2015) · Journal of Cancer Research and Clinical Oncology · doi:10.1007/s00432-015-1983-5 · Cited by 49
“…2001 mandatory reporting of myelodysplastic diseases and changes to SEER reporting protocols, the 2005 discovery of the JAK2 V617F mutation among Ph-negative MPNs (James et al. 2005; Jones et al. 2005), and the 2008 WHO recommended ICD-O-3 re-classification and mutation testing for JAK2 1 3 V617F.”
BackgroundKagoya, Y., Yoshimi, A., Tsuruta-Kishino, T., Arai, S., Satoh, T., Akira, S., & Kurokawa, M. (2014) · Blood · doi:10.1182/blood-2014-04-570572 · Cited by 51
Cankovic, M., Whiteley, L. J., Hawley, R. C., Zarbo, R., & Chitale, D. (2009) · American Journal of Clinical Pathology · doi:10.1309/ajcpfhuqz9agueka · Cited by 49
Mutation screening for JAK2V617F: when to order the test and how to interpret the results.
Tefferi, A., & Pardanani, A. (2006) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2006.01.004 · Cited by 49
Gotlib, J. (2012) · American journal of hematology/oncology · doi:10.1002/ajh.23293 · Cited by 48
Fend, F., Horn, T., Koch, I., Vela, T., & Orazi, A. (2008) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2008.04.024 · Cited by 48
“The recent identification of the Janus kinase 2 (JAK2) 617F mutation in a high percentage of classical Phhronic myeloproliferative neoplasms has prompted several roups to investigate the occurrence of this point mutation n other myeloid neoplasms such as the various entities f the MDS/MPN category as well as of myelod…”
BackgroundDetection of a new JAK2 D620E mutation in addition to V617F in a patient with polycythemia vera
Grünebach, F., Bross-Bach, U., Kanz, L., & Brossart, P. (2006) · Leukemia · doi:10.1038/sj.leu.2404419 · Cited by 48
Atypical myeloproliferative disorders: diagnosis and management.
Tefferi, A., Elliott, M., & Pardanani, A. (2006) · Mayo Clinic proceedings · doi:10.4065/81.4.553 · Cited by 48
Yin, C. C., Medeiros, L., & Bueso-Ramos, C. (2010) · International Journal of Laboratory Hematology · doi:10.1111/j.1751-553x.2010.01246.x · Cited by 47
“…presence of the JAK2 V617F mutation in approximately 95% of patients with polycythemia vera (PV), and 40–50% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) (Baxter et al., 2005; James et al., 2005; Jones et al., 2005; Kralovics et al., 2005; Levine et al., 2005).”
BackgroundAboudola, S., Murugesan, G., Szpurka, H., Ramsingh, G., Zhao, X., Prescott, N. L., Tubbs, R. R., Maciejewski, J. P., & Hsi, E. D. (2007) · The American Journal of Surgical Pathology · doi:10.1097/01.pas.0000213338.25111.d3 · Cited by 47
Molecular Pathogenesis of MDS.
Look, A. (2005) · Hematology. American Society of Hematology. Education Program · doi:10.1182/asheducation-2005.1.156 · Cited by 47
Leal, A. D., Thompson, C. A., Wang, A. H., Vierkant, R. A., Habermann, T. M., Ross, J. A., Mesa, R. A., Virnig, B. A., & Cerhan, J. R. (2013) · International Journal of Cancer · doi:10.1002/ijc.28492 · Cited by 49
“After 261,675 person-years of follow-up (median follow-up time, 11.0 years), 257 cases of MPN were identified, including 172 cases of ET, 64 cases of PV and 21 cases of MF.”
BackgroundInfluentialImpact of isolated germline JAK2V617I mutation on human hematopoiesis
Mead, A. J., Chowdhury, O., Pecquet, C., Dusa, A., Woll, P. S., Atkinson, D., Burns, A., Score, J., Rugless, M. J., Clifford, R. M., et al. (2013) · Blood · doi:10.1182/blood-2012-05-430926 · Cited by 46
“This is important because the JAK2V617F mutation occurs in a wide variety of different MPN phenotypes,(5) myelodysplasia,(6) and acute myeloid leukemia,(7) as well as in patients without any hematopoietic phenotype,(8) and this heterogeneity may in part relate to the presence of other molecular events or genetic modif…”
Background
Metadata
- 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 › 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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