Development of a highly sensitive method for detection of JAK2V617F

Journal of Hematology and Oncology

Volumn 4, Issue , 2011, Pages

  Zhao, Anna H ^a,b   Gao, Rufei ^a,c   Zhao, Zhizhuang J ^a,c  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b Oklahoma School of Science and Mathematics   (United States)

^c JILIN UNIVERSITY   (China)

Author keywords

detection; diagnosis; JAK2; mutation; myeloproliferative neoplasms; Tyrosine kinase

Indexed keywords

JANUS KINASE 2; PLASMID DNA; RESTRICTION ENDONUCLEASE; DNA; JAK2 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; BLOOD CELL; BLOOD CELL COUNT; DIAGNOSTIC TEST ACCURACY STUDY; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MYELOID METAPLASIA; NORMAL HUMAN; POLYCYTHEMIA VERA; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT NESTED ALLELE SPECIFIC POLYMERASE CHAIN REACTION; SENSITIVITY ANALYSIS; THROMBOCYTHEMIA; WILD TYPE; GENETIC PREDISPOSITION; GENETICS; METABOLISM; METHODOLOGY; MUTATION; MYELOPROLIFERATIVE DISORDER; SENSITIVITY AND SPECIFICITY;

DNA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JANUS KINASE 2; MUTATION; MYELOPROLIFERATIVE DISORDERS; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY;

EID: 80053608154     PISSN: None     EISSN: 17568722     Source Type: Journal    
DOI: 10.1186/1756-8722-4-40     Document Type: Article

References (38)

1. Classification and diagnosis of myeloproliferative neoplasms according to the 2008 World Health Organization criteria. Wadleigh M, Tefferi A, Int J Hematol 2010 91 174 179 10.1007/s12185-010-0529-5 20191332
2. Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Levine RL, Pardanani A, Tefferi A, Gilliland DG, Nat Rev Cancer 2007 7 673 683 10.1038/nrc2210 17721432 (Pubitemid 47327415)
3. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, Garçon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W, Nature 2005 434 1144 1148 10.1038/nature03546 15793561 (Pubitemid 40663494)
4. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR, Cancer Genome Project, Lancet 2005 365 1054 1061 15781101 (Pubitemid 40386783)
5. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Fröhling S, Döhner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG, Cancer Cell 2005 7 387 397 10.1016/j.ccr.2005.03.023 15837627 (Pubitemid 40544655)
6. A gain-of-function mutation of JAK2 in myeloproliferative disorders. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M, Skoda RC, N Engl J Med 2005 352 1779 1790 10.1056/NEJMoa051113 15858187 (Pubitemid 40570926)
7. Identification of an acquired JAK2 mutation in polycythemia vera. Zhao R, Xing S, Li Z, Fu X, Li Q, Krantz SB, Zhao ZJ, J Biol Chem 2005 280 22788 22792 10.1074/jbc.C500138200 15863514 (Pubitemid 40853184)
8. Development of ET, primary myelofibrosis and PV in mice expressing JAK2 V617F. Shide K, Shimoda HK, Kumano T, Karube K, Kameda T, Takenaka K, Oku S, Abe H, Katayose KS, Kubuki Y, Kusumoto K, Hasuike S, Tahara Y, Nagata K, Matsuda T, Ohshima K, Harada M, Shimoda K, Leukemia 2008 22 87 95 10.1038/sj.leu.2405043 18033315
9. Ratio of mutant JAK2-V617F to wild type JAK2 determines the MPD phenotypes in transgenic mice. Tiedt R, Hao-Shen H, Sobas MA, Looser R, Dirnhofer S, Schwaller J, Skoda RC, Blood 2008 111 3931 3940 10.1182/blood-2007-08-107748 18160670
10. Transgenic expression of JAK2V617F causes myeloproliferative disorders in mice. Xing S, Wanting TH, Zhao W, Ma J, Wang S, Xu X, Li Q, Fu X, Xu M, Zhao ZJ, Blood 2008 111 5109 5117 10.1182/blood-2007-05-091579 18334677
11. Physiological Jak2V617F expression causes a lethal myeloproliferative neoplasm with differential effects on hematopoietic stem and progenitor cells. Mullally A, Lane SW, Ball B, Megerdichian C, Okabe R, Al-Shahrour F, Paktinat M, Haydu JE, Housman E, Lord AM, Wernig G, Kharas MG, Mercher T, Kutok JL, Gilliland DG, Ebert BL, Cancer Cell 2010 17 584 596 10.1016/j.ccr.2010.05.015 20541703
12. Myeloproliferative neoplasm induced by constitutive expression of JAK2V617F in knock-in mice. Marty C, Lacout C, Martin A, Hasan S, Jacquot S, Birling MC, Vainchenker W, Villeval JL, Blood 2010 116 783 787 10.1182/blood-2009-12-257063 20472827
13. Conditional expression of heterozygous or homozygous Jak2V617F from its endogenous promoter induces a polycythemia vera-like disease. Akada H, Yan D, Zou H, Fiering S, Hutchison RE, Mohi MG, Blood 2010 115 3589 3597 10.1182/blood-2009-04-215848 20197548
14. JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia. Li J, Spensberger D, Ahn JS, Anand S, Beer PA, Ghevaert C, Chen E, Forrai A, Scott LM, Ferreira R, Campbell PJ, Watson SP, Liu P, Erber WN, Huntly BJ, Ottersbach K, Green AR, Blood 2010 116 1528 1538 10.1182/blood-2009-12-259747 20489053
15. Methods for the detection of the JAK2 V617F mutation in human myeloproliferative disorders. Campbell PJ, Scott LM, Baxter EJ, Bench AJ, Green AR, Erber WN, Methods Mol Med 125 253 264
16. JAK2 V617F in myeloid disorders: molecular diagnostic techniques and their clinical utility: a paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. Steensma DP, J Mol Diagn 2006 8 397 411 10.2353/jmoldx.2006.060007 16931578 (Pubitemid 44377920)
17. A sensitive high-throughput method to detect activating mutations of Jak2 in peripheral-blood samples. Sattler M, Walz C, Crowley BJ, Lengfelder E, Jänne PA, Rogers AM, Kuang Y, Distel RJ, Reiter A, Griffin JD, Blood 2006 107 1237 1238 16434495 (Pubitemid 43156332)
18. 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, Clin Chem 2006 52 1436 1438 10.1373/clinchem.2006.066886 16798973 (Pubitemid 43956045)
19. JAK2(V617F): Prevalence in a large Chinese hospital population. Xu X, Zhang Q, Luo J, Xing S, Li Q, Krantz SB, Fu X, Zhao ZJ, Blood 2007 109 339 42 10.1182/blood-2006-03-009472 16946305 (Pubitemid 46053075)
20. Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutation. Wolstencroft EC, Hanlon K, Harries LW, Standen GR, Sternberg A, Ellard S, J Mol Diagn 2007 9 42 46 10.2353/jmoldx.2007.060083 17251334 (Pubitemid 47322012)
21. Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction assay, for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders. Chen Q, Lu P, Jones AV, Cross NC, Silver RT, Wang YL, J Mol Diagn 2007 9 272 276 10.2353/jmoldx.2007.060133 17384221 (Pubitemid 47305096)
22. Detection of the JAK2V617F mutation by asymmetric PCR and melt curve analysis. Sutton BC, Allen RA, Zhao ZJ, Dunn ST, Cancer Biomark 2007 3 315 324 18048969 (Pubitemid 350192855)
23. Validity test study of JAK2 V617F and allele burden quantification in the diagnosis of myeloproliferative diseases. Rapado I, Albizua E, Ayala R, Hernández JA, Garcia-Alonso L, Grande S, Gallardo M, Gilsanz F, Martinez-Lopez J, Ann Hematol 2008 87 741 749 10.1007/s00277-008-0512-x 18575865
24. MassARRAY assay: a more accurate method for JAK2V617F mutation detection in Chinese patients with myeloproliferative disorders. Fu JF, Shi JY, Zhao WL, Li G, Pan Q, Li JM, Hu J, Shen ZX, Jin J, Chen FY, Chen SJ, Leukemia 2008 22 660 663 10.1038/sj.leu.2404931 17728780 (Pubitemid 351386745)
25. Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Lippert E, Girodon F, Hammond E, Jelinek J, Reading NS, Fehse B, Hanlon K, Hermans M, Richard C, Swierczek S, Ugo V, Carillo S, Harrivel V, Marzac C, Pietra D, Sobas M, Mounier M, Migeon M, Ellard S, Kröger N, Herrmann R, Prchal JT, Skoda RC, Hermouet S, Haematologica 2009 94 38 45 10.3324/haematol.13486 19001280
26. Two-round allele specific-polymerase chain reaction: a simple and highly sensitive method for JAK2V617F mutation detection. Kannim S, Thongnoppakhun W, Auewarakul CU, Clin Chim Acta 2009 401 148 151 10.1016/j.cca.2008.12.010 19135044
27. Comparison of JAK2V617F mutation assessment employing different molecular diagnostic techniques. Veneri D, Capuzzo E, de Matteis G, Franchini M, Baritono E, Benati M, Solero GP, Ambrosetti A, Quaresmini G, Pizzolo G, Blood Transfus 2009 7 204 209 19657484
28. Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices. Tefferi A, Leuk Lymphoma 2010 51 576 582 10.3109/10428191003605313 20214447
29. BsaXI/RFLP analysis of initial or selectively reamplified PCR product is unreliable in detecting the V617F mutation in JAK2. Shepard GC, Lawson HL, Hawkins GA, Owen J, Int J Lab Hematol 2011 33 267 271 10.1111/j.1751-553X.2010. 01282.x 21118387
30. A single-tube allele specific-polymerase chain reaction to detect T315I resistant mutation in chronic myeloid leukemia patients. Wongboonma W, Thongnoppakhun W, Auewarakul CU, J Hematol Oncol 2011 4 7 21303525
31. The JAK2V617F mutation is detectable at very low level in peripheral blood of healthy donors. Sidon P, El Housni H, Dessars B, Heimann P, Leukemia 2006 20 1622 10.1038/sj.leu.2404292 16775613 (Pubitemid 44264108)
32. Relevance of JAK2V617F positivity to hematological diseases - survey of samples from a clinical genetics laboratory. Zhao W, Gao R, Lee J, Xing S, Ho WT, Fu X, Li S, Zhao ZJ, J Hematol Oncol 2011 4 4 10.1186/1756-8722-4-4 21235771
33. Epidemiology of the myeloproliferative disorders: Essential thrombocythaemia, polycythaemia vera and idiopeathic myelofibrosis. Kutti J, Ridell B, Pathol Biol (Paris) 2001 49 164 166 10.1016/S0369-8114(00)00023-7 (Pubitemid 32242397)
34. The JAK2 V617F allele burden in essential thrombocythemia, polycythemia vera and primary myelofibrosis - impact on disease phenotype. Larsen TS, Pallisgaard N, Møller MB, Hasselbalch HC, Eur J Haematol 2007 79 508 515 10.1111/j.1600-0609.2007.00960.x 17961178 (Pubitemid 350126669)
35. Clinical correlates of JAK2V617F presence or allele burden in myeloproliferative neoplasms: a critical reappraisal. Vannucchi AM, Antonioli E, Guglielmelli P, Pardanani A, Tefferi A, Leukemia 2008 22 1299 1307 10.1038/leu.2008.113 18496562
36. Targeting myeloproliferative neoplasms with JAK inhibitors. Pardanani A, Tefferi A, Curr Opin Hematol 2011 18 105 110 10.1097/MOH.0b013e3283439964 21245760
37. Janus kinase inhibitors for the treatment of myeloproliferative neoplasias and beyond. Quintás-Cardama A, Kantarjian H, Cortes J, Verstovsek S, Nat Rev Drug Discov 2011 10 127 140 10.1038/nrd3264 21283107
38. First-line treatment for chronic myeloid leukemia: dasatinib, nilotinib, or imatinib. Wei G, Rafiyath S, Liu D, J Hematol Oncol 2010 3 47 10.1186/1756-8722-3-47 21108851