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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[JAK2(V617F) mutation in Korean patients with essential thrombocythemia].
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“JAK2 유전자 변이는 exon 12번이 점돌연변이에 의해 codon 617부위에서 valine이 phenylalanine으로 치환된 것으로 진성적혈 구증다증 환자의 65-97%에서 가장 높은 빈도로 보고되고 골수양 화생골수섬유증 35-50%, 전신성 비만세포증 0-25%, 만성호중구 성백혈병 17-33%, 만성골수구단구성백혈병 3-20%, 과호산구성증 후군 0-2%, 골수이형성증후군 5%, 본태성혈소판혈증 23-57%의 빈도로 보고되었다[2, 5-7, 10, 15-18].”
Valoración de la mutación V617F del gen JAK2 en síndromes mieloproliferativos crónicos con cromosoma Filadelfia negativo
Remacha, Á., Puget, G., Nomdedeu, J., Estivill, C., Sardà, M., & Canals, C. (2006) · doi:10.1157/13094416 · Cited by 7
Contribution of molecular characterization to the diagnosis of MPN in patients with low JAK2V617F variant allelic fraction in a real-world cohort
Lebecque, B., Croizier, C., Tassin, T., Louis, E., Tribalat, N., Bombardier, W., Grandjean, A., Pante, V., Monjanel, H., Bouillon‐Minois, J., et al. (2025) · Annals of Hematology · doi:10.1007/s00277-025-06326-w · Cited by 6
“This JAK2 V617F mutation is found in approximately 98% of patients with PV, 50-60% of patients with ET, and 55-65% of patients with PMF [ 2, 3 ].”
Clinical and Molecular Attributes of Patients With BCR/ABL1-negative Myeloproliferative Neoplasms in India: Real-world Data and Challenges.
Singh, S., Kaur, K., Paul, D., Jain, K., Singh, J. K., Narang, V., Garg, B., Sood, N., & Dhillon, B. K. (2021) · Clinical Lymphoma, Myeloma & Leukemia · doi:10.1016/j.clml.2021.01.017 · Cited by 6
Coexistence of follicular lymphoma and an unclassifiable myeloproliferative neoplasm in a treatment-naïve patient: A case report.
Jeong, G., Kim, J.-H., Han, S., Lee, J., Park, K., Pak, C.-Y., Lim, J.-H., Cha, H., Kim, H., & Jo, J. (2016) · Oncology Letters · doi:10.3892/ol.2015.4040 · Cited by 6
“The JAK2 V617F mutation is present in 95% of patients with polycythemia vera and in ~50% of patients with primary myelo-fibrosis or essential thrombocythemia (24,25).”
Improved Diagnosis of the Transition to JAK2 V617F Homozygosity: The Key Feature for Predicting the Evolution of Myeloproliferative Neoplasms
Gonzalez, M., Brasi, C. D. D., Bianchini, M., Gargallo, P., Stanganelli, C., Zalcberg, I., & Larripa, I. (2014) · PLoS ONE · doi:10.1371/journal.pone.0086401 · Cited by 6
“[15] (Table 2).”
A Case of Philadelphia Chromosome Positive Myeloproliferative Neoplasm in a Pregnant Woman with Unusual Primary Myelofibrosis Features
Koshy, J., Alperin, J., Jana, B., Markowitz, A., & Qian, Y.-W. (2013) · Case Reports in Hematology · doi:10.1155/2013/702831 · Cited by 6
Abnormal regulation of soluble and anchored IL-6 receptor in monocytes from patients with essential thrombocythemia.
Goette, N. P., Lev, P., Heller, P., Glembotsky, A. C., Chazarreta, C. D., Salim, J. P., Molinas, F., & Marta, R. (2010) · Experimental Hematology · doi:10.1016/j.exphem.2010.06.007 · Cited by 6
“[22].”
JAK2 V617F and the evolving paradigm of polycythemia vera
Means, R. (2010) · The Korean Journal of Hematology · doi:10.5045/kjh.2010.45.2.90 · Cited by 6
“Mutations of JAK2 V617F were reported to occur in 80-96% of cases of PV, and to correlate strongly with the 2001 WHO criteria [19-21].”
Background
[Hematological disorders and hypereosinophilias].
Malfuson, J., Fagot, T., Konopacki, J., Mangouka, L., Souleau, B., & de Revel, T. (2009) · La Revue de medecine interne · doi:10.1016/j.revmed.2008.10.019 · Cited by 6
A case of Philadelphia-chromosome positive chronic idiopathic myelofibrosis.
Chen, F., Zhang, C.-Q., Wang, W., Li, L.-Z., Yan, S.-X., Sun, J.-Z., Zhang, M.-H., Ji, C., & Hou, M. (2008) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2007.08.001 · Cited by 6
Incidence and significance of the JAK2 V617F mutation in patients with chronic myeloproliferative disorders
Langabeer, S., Áinle, F., Conneally, E., & Lawler, M. (2007) · Irish Journal of Medical Science · doi:10.1007/s11845-007-0026-x · Cited by 6
“Several independent investigators have recently described the presence of a mutation in the gene encoding the intracellular signalling protein, JAK2 and its incidence in patients with PRV, ET, IMF and a number of other less common MPD [6–11].”
Background
HEREDITARY AND FAMILIAL SYNDROMES OF BONE AND BLOOD. GENETIC PATHWAYS, DIAGNOSTIC PITFALLS
Rossbach, H. (2007) · Fetal and Pediatric Pathology · doi:10.1080/15513810701394777 · Cited by 6
“The recent discovery of a dominant gain-of-function mutation of the Janus kinase 2 (JAK2 V617F) gene, present in 50% of patients with IM [40, 41] has shed light on the pathophysiology of this disorder.”
Background
Diagnostic Usefulness of the Janus Kinase 2 Mutation in non BCR/ABL Myeloproliferative Disorders
Bang, S., Ahn, J., Park, J., Yoo, S., Park, S., Nam, E., Park, P., Seo, Y., Cho, E., Shin, D., et al. (2006) · The Korean Journal of Internal Medicine · doi:10.3904/kjim.2006.21.4.219 · Cited by 6
Classic and atypical myeloproliferative disorders
Tefferi, A. (2006) · doi:10.1016/j.beha.2005.07.014 · Cited by 6
Methods for detecting mutations in the human JAK2 gene.
Bench, A., Baxter, E. J., & Green, A. (2013) · Methods in molecular biology · doi:10.1007/978-1-62703-242-1_8 · Cited by 6
Molecular Aspects of Hematologic Malignancies
Witt, M., Dawidowska, M., & Szczepański, T. (2012) · Principles and Practice · doi:10.1007/978-3-642-29467-9 · Cited by 6
Integrative Oncogenomic Analysis of Microarray Data in Hematologic Malignancies
Martinez-Climent, J. A., Fontán, L., Fresquet, V., Robles, E. F., Ortiz, M., & Rubio, Á. (2009) · Methods in molecular biology · doi:10.1007/978-1-59745-545-9_13 · Cited by 7
Frequency of JAK2V617F Mutation Zygosity and Impact on Disease Outcome in MPN Patients
Khazeem, M. (2025) · Asian Pacific Journal of Cancer Prevention · doi:10.31557/apjcp.2025.26.2.677 · Cited by 5
“This technique is precise, easy, cost-effective, and useful for qualitative detection of zygosity [26], and has been used frequently in previous studies [3, 25, 27].”
New Horizons in Myeloproliferative Neoplasms Treatment: A Review of Current and Future Therapeutic Options
Penna, D. (2021) · Medicina · doi:10.3390/medicina57111181 · Cited by 5
A rare atypical chronic myeloid leukemia BCR-ABL1 negative with concomitant JAK2 V617F and SETBP1 mutations: a case report and literature review
Gao, T., Yu, C., Xia, S., Liang, T., Gu, X., & Liu, Z. (2020) · Therapeutic Advances in Hematology · doi:10.1177/2040620720927105 · Cited by 16
Severe asthma with blood hypereosinophilia associated withJAK2V617F mutation: a case series
Tabèze, L., Marchand-Adam, S., Borie, R., Justet, A., Dupin, C., Dombret, M.-C., Crestani, B., & Taillé, C. (2019) · European Respiratory Journal · doi:10.1183/13993003.02248-2018 · Cited by 7
pSTAT5 and ERK exhibit different expression in myeloproliferative neoplasms.
Wiśniewska-Chudy, E., Szylberg, Ł., Dworacki, G., Mizera-Nyczak, E., & Marszałek, A. (2017) · Oncology Report · doi:10.3892/or.2017.5476 · Cited by 5
Low frequency of V617F mutation in JAK2 gene in Indian patients with hepatic venous outflow obstruction and extrahepatic portal venous obstruction
Rai, P., Kumar, P., Mishra, S., & Aggarwal, R. (2016) · Indian Journal of Gastroenterology · doi:10.1007/s12664-016-0691-7 · Cited by 5
“Method B This method used four primers: two forward and two reverse (Table 1) [19].”
Method
Anagrelide hydrochloride and ruxolitinib for treatment of polycythemia vera
Kremyanskaya, M., Mascarenhas, J., & Hoffman, R. (2015) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.2015.1036029 · Cited by 5
“The JAK2V617F mutation occurs in 95% of patients with PV and in 50 -- 60% of patients with PMF or ET [7].”
Background
Genomic diversity in myeloproliferative neoplasms: focus on myelofibrosis.
Singh, N. R. (2015) · PubMed Central · doi:10.3978/j.issn.2224-4336.2015.03.06 · Cited by 5
“In 2005 four different groups detected an identical gain of function point mutation of the JAK2 gene (29-32).”
Background
Three‐way translocation (X;20;16)(p11;q13;q23) in essential thrombocythemia implicates NFATC2 in dysregulation of CSF2 expression and megakaryocyte proliferation
Vieira, L., Vaz, A., Matos, P., Ambrósio, A. P., Nogueira, M., Marques, B., Pereira, A. M., Jordan, P., & da Silva, M. D. (2012) · Genes, Chromosomes and Cancer · doi:10.1002/gcc.21994 · Cited by 5
“The JAK2V617F mutation is present in the majority of patients with PV and in approximately half of those with PMF or ET (Baxter et al., 2005; James et al., 2005; Jones et al., 2005; Kralovics et al., 2005).”
Background
The role of molecular genetic analysis within the diagnostic haemato‐oncology laboratory
Bench, A. J. (2011) · International Journal of Laboratory Hematology · doi:10.1111/j.1751-553x.2011.01364.x · Cited by 7
“Pyrosequencing offers an approach to screening for a small number of known mutations (Jones et al., 2005; Oki et al., 2006) but may not necessarily identify all possible mutations within an amplicon.”
Background
Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
Leon, A., Staropoli, J., Hernández, J., Longtine, J., Kuo, F. C., & Cin, P. D. (2011) · Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis · doi:10.1016/j.leukres.2011.02.001 · Cited by 5
JAK2V617F mutation is associated with special alleles in essential thrombocythemia
Hsiao, H.-H., Liu, Y.-C., Tsai, H.-J., Lee, C.-P., Hsu, J.-F., & Lin, S.-F. (2011) · Leukemia and Lymphoma · doi:10.3109/10428194.2010.542260 · Cited by 5
“Briefly, samples were genotyped by a tetra-primer ARMS assay, which uses two primer pairs to amplify the normal and mutant sequences, plus a positive control band in a single PCR.”
Method
Melting Point Assay for the JAK2 V617F Mutation, Comparison with Amplification Refractory Mutation System (ARMS) in Diagnostic Samples, and Implications for Daily Routine
Ochsenreither, S., Reinwald, M., Thiel, E., & Burmeister, T. (2010) · Molecular Diagnosis & Therapy · doi:10.1007/bf03256372 · Cited by 5
“For qualitative detection, the most important methods in use are sequencing,([1-3,5,15]) restriction fragment length polymorphism (RFLP) analysis,([4,16]) and the amplification refractory mutation system (ARMS) technique.([4,17]) For quantification of the mutational load, the most frequently used methods are pyroseque…”
MethodInfluential
JAK2 V617F Mutation Detection: Laboratory Comparison of Two Kits Using RFLP and qPCR
Shammaa, D. M. R., Bazarbachi, A., Halas, H., Greige, L., & Mahfouz, R. (2010) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2009.0119 · Cited by 5
“…patients with chronicmyelomonocyticleukemia,chronicneutrophilicleuke-mia,hypereosinophilicsyndrome,myelodysplasia,andacute myeloidleukemia(Jelinek et al. , 2005; Jones et al. , 2005; Levine et al. , 2005; Scott et al. , 2005; Steensma et al. , 2005; Campbell et al. , 2006; Fro¨hling et al. , 2006).”
Plasma levels of JAK2 mRNA in patients with chronic myeloproliferative diseases with and without V617F mutation: implications for prognosis and disease biology
Ma, W.-L., Kantarjian, H., Zhang, X., Yeh, C., Zhang, Z. J., Verstovsek, S., O'Brien, S., Giles, F. J., & Albitar, M. (2009) · International Journal of Laboratory Hematology · doi:10.1111/j.1751-553x.2009.01140.x · Cited by 5
“…32, 95–102 95 International Journal of Laboratory Hematology The Official journal of the International Society for Laboratory Hematology et al., 2005; James et al., 2005; Jones et al., 2005; Kralovics et al., 2005; Levine et al., 2005; Steensma et al., 2005; Zhao et al., 2005; Nelson et al., 2006).”
Background
No evidence for amplification of V617F JAK2 in myeloproliferative disorders
Jones, A., Bunyan, D., & Cross, N. (2007) · Leukemia · doi:10.1038/sj.leu.2404845 · Cited by 5
Self-citation
Myelodysplastic Syndromes and Myelodysplastic/Myeloproliferative Neoplasms
Wang, S. A. (2010) · doi:10.1007/978-1-60761-384-8_6 · Cited by 5
Eosinophilic leukaemia.
Fletcher, S., & Bain, B. (2007) · British Medical Bulletin · doi:10.1093/bmb/ldm008 · Cited by 5
Clinical Impact of JAK2V617F Allele Burden in Philadelphia-Negative Myeloproliferative Neoplasms
Yonal-Hindilerden, İ., Şahin, E., Hindilerden, F., Daglar-Aday, A., & Nalçacı, M. (2023) · Turkish journal of haematology : official journal of Turkish Society of Haematology · doi:10.4274/tjh.galenos.2023.2023.0169 · Cited by 4
“Several studies reported the frequency of the JAK2V617F mutation in ET and PMF as 60%-65% [14,15].”
Background
Hypereosinophilic Syndrome with Endomyocarditis: Identification by Next-Generation Sequencing of the JAK2-V617F Mutation
Tesfamicael, R., Aung, T., Lee, T. D., & Brahn, E. (2023) · European Journal of Rheumatology · doi:10.5152/eurjrheum.2023.22123 · Cited by 4
Clonal hematopoiesis and its role in the development of hematological diseases
Петинати, Н. А., & Дризе, Н. И. (2021) · Гематология и трансфузиология · doi:10.35754/0234-5730-2021-66-4-580-592 · Cited by 5
“[47] показано, что наличие JAK2-V617F мутации при КК связано с повышенным риском ОМЛ (ОШ — 6,1, 95 % ДИ: 1,2–61,1; p = 0,03).”
Molecular analysis of V617F mutation in Janus kinase 2 gene of breast cancer patients
Karim, S., Malik, I., Nazeer, Q., Zaheer, A., Farooq, M., Mahmood, N., Malik, A., Asif, M., Mehmood, A., Khan, A. R., et al. (2019) · Saudi Journal of Biological Sciences · doi:10.1016/j.sjbs.2019.08.002 · Cited by 4
“For the mutational analysis, Polymerase Chain reaction (PCR) analysis were carried out using four different sets of the JAK2 gene primers as reported (Jones et al., 2005) (Table 1) to check the mutation (V617F) point in which valine gets changed into phenylalanine (G? T mutation).”
Method
Skin-limited idiopathic hypereosinophilic syndrome presenting with retiform purpura
Yu, Z., Dee, E., Menge, T. D., Ward, A., & Song, P. (2019) · JAAD Case Reports · doi:10.1016/j.jdcr.2019.06.013 · Cited by 4
“06% (unclear clinical significance given negative bone marrow biopsy result).(3,4) Head, abdomen, and pelvis computed tomography scans, abdomen ultrasonography, and transthoracic echocardiography were unremarkable.”
Background
Molecular Analysis of Gene Rearrangements and Mutations in Acute Leukemias and Myeloid Neoplasms
Sholl, L., Longtine, J., & Kuo, F. C. (2017) · Current Protocols in Human Genetics · doi:10.1002/cphg.31 · Cited by 4
“A sensitive approach that can detect as few as 1% to 2% of mutant cells in a population is the amplification refractory mutation system (ARMS; Jones et al., 2005), which essentially utilizes PCR and gel electrophoresis to detect the presence of a mutation (Alternate Protocol 6).”
BackgroundMethod
Evaluation of thrombin generation in classical Philadelphianegative myeloproliferative neoplasms / Evaluarea generării trombinei în neoplasmele mieloproliferative Philadelphia- negative
Olteanu, A., Mihăilă, R., & Mihalache, M. (2016) · doi:10.1515/rrlm-2016-0026 · Cited by 4
Acute Lymphoblastic Leukemia evolving from atypical Chronic Myelogenous Leukemia: Case Report and Review of the Literature
Pennisi, A., Jewell, S. W., Gralewski, J. H., Alapat, D. V., William, B., Jethava, Y., & Motwani, P. (2015) · doi:10.4172/2329-6917.s1-007 · Cited by 4
“The activating JAK2 V617F mutation has been reported in some cases of aCML [4,5] and approximately 30 percent of cases are associated with acquired mutations of NRAS or KRAS [6].”
Background
Fasudil, a clinically-safe ROCK Inhibitor, Decreases Disease Burden in a Cbl/Cbl-b Deficiency-Driven Murine Model of Myeloproliferative Disorders
William, B., An, W., Feng, D., Nadeau, S. A., Mohapatra, B. C., Storck, M. A., Band, V., & Band, H. (2015) · Hematology · doi:10.1179/1607845415y.0000000031 · Cited by 4
Prevalence of JAK2V617F mutation in deep venous thrombosis patients and its clinical significance as a thrombophilic risk factor
Singh, N., Sharma, A., Sazawal, S., Ahuja, A., Upadhyay, A., Mahapatra, M., & Saxena, R. (2015) · Clinical and applied thrombosis/hemostasis · doi:10.1177/1076029615578166 · Cited by 4
“Presence of JAK2V617F mutation was assessed by DNA tetra-primer–based amplification refractory mutation system-(ARMS) PCR method exactly as described by Jones et al.(10) All samples were initially screened by ARMS-PCR technique (due to its high sensitivity), and the positive samples were reanalyzed by a second techniq…”
Method
[Complex molecular genetic algorithm in the diagnosis of myeloproliferative neoplasms].
Krahling, T., Balassa, K., Meggyesi, N., Bors, A., Csomor, J., Bátai, Á., Halm, G., Egyed, M., Fekete, S., Remenyi, P., et al. (2014) · Orvosi Hetilap · doi:10.1556/oh.2014.30051 · Cited by 4
Concomitant Myeloproliferative and Lymphoid Neoplasms in Two Patients Positive for JAK2 V617F Mutation. Case Report and Literature Review
Trifa, A., Cucuianu, A., Popp, R., Pațiu, M., Selicean, C., Militaru, M., & Pop, I. V. (2014) · Indian Journal of Hematology and Blood Transfusion · doi:10.1007/s12288-013-0281-0 · Cited by 4
Detection of Jak2 V617f Mutation, Secondary to the Presence of Bcr-Abl1 Translocation in a Patient with Chronic Myeloid Leukemia: Report of a Case and Review of the Literature
Carranza, C., Tinti, D., Herrera, M., Rosales, L., Villegas, M., & Alvarez, L. (2014) · doi:10.4172/2332-0672.1000116 · Cited by 4
JAK2 V617F allele burden quantified by real time quantitative polymerase chain reaction and competitive polymerase chain reaction in patients with chronic myeloproliferative neoplasia
Kaeda, J., Bonamino, M., Ayres-Silva, J., Solza, C., Ringel, F., Blau, O., Daumas, A., Oberender, C., Dörken, B., le Coutre, P., et al. (2014) · Leukemia and Lymphoma · doi:10.3109/10428194.2013.797085 · Cited by 4
[Recurrent deep vein thrombosis and myeloproliferative syndrom: emergence of JAK2 mutation five years after the initial event].
Salort, A., Seinturier, C., Molina, L., Leveque, P., Imbert, B., & Pernod, G. (2013) · Journal des Maladies Vasculaires · doi:10.1016/j.jmv.2014.02.005 · Cited by 4
Methylation of SOCS3 in Myeloproliferative Neoplasms and Secondary Erythrocytosis/Thrombocythemia
Torun, D., Nevruz, O., Akyol, M., Kozan, S., Bahçe, M., Güran, Ş., & Beyan, C. (2013) · Turkish journal of haematology : official journal of Turkish Society of Haematology · doi:10.4274/tjh.98474 · Cited by 4
“JAK2 V617F mutation was reported in 90%-95% of PV, 50% of PMF, and 40%-50% of ET patients in the literature [17,18,19].”
Background
The role of zinc protoporphyrin measurement in the differentiation between primary myelofibrosis and essential thrombocythaemia
Metzgeroth, G., Kanders, E. M., Erben, P., Hofmann, W., & Hastka, J. (2011) · Annals of Hematology · doi:10.1007/s00277-010-1089-8 · Cited by 4
“The stored DNA samples were tested for the JAK2V617F mutation by tetra ARMS PCR assay as described [ 11 ] in 55 patients.”
Method
JAK2 V617F mutation is uncommon in patients with the 3q21q26 syndrome.
Lin, P., Luthra, R., Nussenzveig, R., & Medeiros, L. (2010) · Human Pathology · doi:10.1016/j.humpath.2009.11.004 · Cited by 4
Quantitative Assay for Janus Kinase 2 (JAK2) Mutation in Chinese Patients with Chronic Myeloproliferative Disorders
Shen, Y., Chao, H., Zhang, R., Feng, Y.-F., Cen, J., Yao, L., Shen, H.-J., Zhu, Z.-L., & Xue, Y.-G. (2009) · Journal of International Medical Research · doi:10.1177/147323000903700105 · Cited by 4
Update on the impact of the JAK2 mutation on signalling pathways in myeloproliferative disorders
Skoda, R. (2007) · European journal of haematology. Supplementum · doi:10.1111/j.1600-0609.2007.00935.x · Cited by 4
“ET patients, in particular, show a lower mutational load and very rarely show homozygous JAK2 V617F compared with PV and IMF (23).”
BackgroundInfluential
The JAK2V617F tyrosine kinase mutation in myeloproliferative disorders: Summary of published literature and a perspective
Wadleigh, M., & Gilliland, D. (2006) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-006-0026-3 · Cited by 4
[A recurrent mutation of the JAK2 gene in chronic myeloproliferative disorders].
Berger, R. (2006) · Pathologie et biologie · doi:10.1016/j.patbio.2005.07.002 · Cited by 4
Laboratory detection of JAK2V617F in human myeloproliferative neoplasms.
Kui, J. S., Espinal-Witter, R., & Wang, Y. (2013) · Methods in molecular biology · doi:10.1007/978-1-62703-357-2_3 · Cited by 4
Detection of Acquired Janus Kinase 2 V617F Mutation in Myeloproliferative Disorders by Fluorescence Melting Curve Analysis
Reading, N., Lim, M., & Elenitoba-Johnson, K. (2012) · Molecular Diagnosis & Therapy · doi:10.1007/bf03256206 · Cited by 4
Diagnosis and Classification of the BCR-ABL1-Negative Myeloproliferative Neoplasms
Bueso-Ramos, C., & Vardiman, J. (2011) · doi:10.1007/978-1-60761-266-7_1 · Cited by 4
Buddi-Chiari syndrome associated with hypereosinophilic syndrome: A case report
Li, Z.-X., Li, N., Ji, Z., Shi, J.-H., & Xin, G. (2023) · Medicine · doi:10.1097/md.0000000000034291 · Cited by 3
“[16] This mutation is very common in patients with polycythemia vera, primary thrombocythemia, and idiopathic myelofibrosis, but is rare in hypereosinophilic syndrome.[17] Only a few case reports have described hypereosinophilic syndrome associated with the JAK2V617F mutation.”
Background
The role of erythropoietin levels and other hematological factors in the diagnosis of polycythemia vera in Iraqi patients
Dayyeni, A. A., Al-Gailani, B., & Mahdi, M. (2023) · Iraqi Journal of Hematology · doi:10.4103/ijh.ijh_8_23 · Cited by 3
Novel JAK2 Exon 14 Mutations L611S or N622Y in cis with JAK2V617F Are Associated with Distinct Clinical Phenotype of Polycythemia Vera and Concurrent Eosinophilia
Patel, A., Juskevicius, R., & Mohan, S. R. (2022) · Acta Haematologica · doi:10.1159/000527695 · Cited by 3
Revisiting potential value of antitumor drugs in the treatment of COVID-19
Zheng, W., Zeng, Z., Lin, S., & Hou, P. (2022) · Cell & Bioscience · doi:10.1186/s13578-022-00899-z · Cited by 5
BRCA2 promoter hypermethylation as a biomarker for the leukemic transformation of myeloproliferative neoplasms.
Yang, C., Zhang, Q., Tang, X., Wang, B., Guan, M., Tang, G., & Wu, Z.-Y. (2022) · Epigenomics · doi:10.2217/epi-2022-0025 · Cited by 3

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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