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Volumn 53, Issue 12, 2012, Pages 2479-2486

Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: Identification of L611S alone and in cis with V617F in polycythemia vera

Author keywords

FFPE; High resolution melt; JAK2 exon 12; JAK2 exon 14; Mutation detection; Myeloproliferative neoplasm; Polycythemia vera

Indexed keywords

DNA; FORMALDEHYDE; JANUS KINASE 2; PARAFFIN;

EID: 84868370152     PISSN: 10428194     EISSN: 10292403     Source Type: Journal    
DOI: 10.3109/10428194.2012.697562     Document Type: Article
Times cited : (11)

References (28)
  • 5
    • 77952426182 scopus 로고    scopus 로고
    • JAK2 mutation and disease phenotype: A double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5
    • Cleyrat C, Jelinek J, Girodon F, et al. JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5. Leukemia 2010;24:1069-1073.
    • (2010) Leukemia , vol.24 , pp. 1069-1073
    • Cleyrat, C.1    Jelinek, J.2    Girodon, F.3
  • 6
    • 31444432749 scopus 로고    scopus 로고
    • Mutational screen reveals a novel JAK mutation, L611S, in a child with acute lymphoblastic leukemia [14]
    • DOI 10.1038/sj.leu.2404060, PII 2404060
    • Kratz CP, Boll S, Kontny U, et al. Mutational screen reveals a novel JAK2 mutation, L611S, in a child with acute lymphoblastic leukemia. Leukemia 2006;20:381-383. (Pubitemid 43148689)
    • (2006) Leukemia , vol.20 , Issue.2 , pp. 381-383
    • Kratz, C.P.1    Boll, S.2    Kontny, U.3    Schrappe, M.4    Niemeyer, C.M.5    Stanulla, M.6
  • 9
    • 58149232434 scopus 로고    scopus 로고
    • Concordance of assays designed for the quantification of JAK2V617F: A multicenter study
    • Lippert E, Girodon F, Hammond E, et al. Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica 2009;94:38-45.
    • (2009) Haematologica , vol.94 , pp. 38-45
    • Lippert, E.1    Girodon, F.2    Hammond, E.3
  • 10
    • 79954579303 scopus 로고    scopus 로고
    • Nested high-resolution melting curve analysis a highly sensitive, reliable, and simple method for detection of jak2 exon 12 mutations-clinical relevance in the monitoring of polycythemia
    • Carillo S, Henry L, Lippert E, et al. Nested high-resolution melting curve analysis a highly sensitive, reliable, and simple method for detection of jak2 exon 12 mutations-clinical relevance in the monitoring of polycythemia. J Mol Diagn 2011;13:263-270.
    • (2011) J Mol Diagn , vol.13 , pp. 263-270
    • Carillo, S.1    Henry, L.2    Lippert, E.3
  • 11
    • 69849094945 scopus 로고    scopus 로고
    • Detection of the JAK2 V617F missense mutation by high resolution melting analysis and its validation
    • Er TK, Lin SF, Chang JG, et al. Detection of the JAK2 V617F missense mutation by high resolution melting analysis and its validation. Clin Chim Acta 2009;408:39-44.
    • (2009) Clin Chim Acta , vol.408 , pp. 39-44
    • Er, T.K.1    Lin, S.F.2    Chang, J.G.3
  • 12
    • 77957752388 scopus 로고    scopus 로고
    • Rapid detection of JAK2 V617F mutation using high-resolution melting analysis with LightScanner platform
    • Qian J, Lin J, Yao DM, et al. Rapid detection of JAK2 V617F mutation using high-resolution melting analysis with LightScanner platform. Clin Chim Acta 2010;411:2097-2100.
    • (2010) Clin Chim Acta , vol.411 , pp. 2097-2100
    • Qian, J.1    Lin, J.2    Yao, D.M.3
  • 13
    • 64249120879 scopus 로고    scopus 로고
    • High resolution melting analysis for JAK2 exon 14 and exon 12 mutations: A diagnostic tool for myeloproliferative neoplasms
    • Rapado I, Grande S, Albizua E, et al. High resolution melting analysis for JAK2 exon 14 and exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms. J Mol Diagn 2009;11:155-161.
    • (2009) J Mol Diagn , vol.11 , pp. 155-161
    • Rapado, I.1    Grande, S.2    Albizua, E.3
  • 14
    • 77749245998 scopus 로고    scopus 로고
    • Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients
    • Ugo V, Tondeur S, Menot ML, et al. Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients. PLoS One 2010; 5:e8893.
    • (2010) PLoS One , vol.5
    • Ugo, V.1    Tondeur, S.2    Menot, M.L.3
  • 16
    • 79953313021 scopus 로고    scopus 로고
    • UMELT: Prediction of highresolution melting curves and dynamic melting profiles of PCR products in a rich web application
    • Dwight Z, Palais R, Wittwer CT. uMELT: prediction of highresolution melting curves and dynamic melting profiles of PCR products in a rich web application. Bioinformatics 2011;27:1019-1020.
    • (2011) Bioinformatics , vol.27 , pp. 1019-1020
    • Dwight, Z.1    Palais, R.2    Wittwer, C.T.3
  • 17
    • 67649982967 scopus 로고    scopus 로고
    • A novel JAK2 exon 12 mutation identified in the retrospective analysis of paraffin-embedded tissues of polycythemia vera patients
    • Burjanivova T, Marcinek J, Lasabova Z, et al. A novel JAK2 exon 12 mutation identified in the retrospective analysis of paraffin-embedded tissues of polycythemia vera patients. Diagn Mol Pathol 2009;18:108-111.
    • (2009) Diagn Mol Pathol , vol.18 , pp. 108-111
    • Burjanivova, T.1    Marcinek, J.2    Lasabova, Z.3
  • 18
    • 33845755386 scopus 로고    scopus 로고
    • Polycythemia vera is not initiated by JAK2V617F mutation
    • Nussenzveig RH, Swierczek SI, Jelinek J, et al. Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol 2007;35:32-38.
    • (2007) Exp Hematol , vol.35 , pp. 32-38
    • Nussenzveig, R.H.1    Swierczek, S.I.2    Jelinek, J.3
  • 19
    • 67649803143 scopus 로고    scopus 로고
    • The acute lymphoblastic leukemia-associated JAK2 L611S mutant induces tumorigenesis in nude mice
    • Funakoshi-Tago M, Tago K, Sumi K, et al. The acute lymphoblastic leukemia-associated JAK2 L611S mutant induces tumorigenesis in nude mice. J Biol Chem 2009;284:12680-12690.
    • (2009) J Biol Chem , vol.284 , pp. 12680-12690
    • Funakoshi-Tago, M.1    Tago, K.2    Sumi, K.3
  • 20
    • 33645545371 scopus 로고    scopus 로고
    • Identification of the JAK2 V617F mutation in chronic myeloproliferative disorders using FRET probes and melting curve analysis
    • Murugesan G, Aboudola S, Szpurka H, et al. Identification of the JAK2 V617F mutation in chronic myeloproliferative disorders using FRET probes and melting curve analysis. Am J Clin Pathol 2006;125:625-633.
    • (2006) Am J Clin Pathol , vol.125 , pp. 625-633
    • Murugesan, G.1    Aboudola, S.2    Szpurka, H.3
  • 21
    • 77249150048 scopus 로고    scopus 로고
    • The implication of identifying JAK2 (V617F) in myeloproliferative neoplasms and myelodysplastic syndromes with bone marrow fibrosis
    • Olsen RJ, Dunphy CH, O'Malley DP, et al. The implication of identifying JAK2 (V617F) in myeloproliferative neoplasms and myelodysplastic syndromes with bone marrow fibrosis. J Hematop 2008;1:111-117.
    • (2008) J Hematop , vol.1 , pp. 111-117
    • Olsen, R.J.1    Dunphy, C.H.2    O'Malley, D.P.3
  • 23
    • 33749325187 scopus 로고    scopus 로고
    • Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation
    • DOI 10.1182/blood-2006-02-005751
    • Szpurka H, Tiu R, Murugesan G, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood 2006;108:2173-2181. (Pubitemid 44497497)
    • (2006) Blood , vol.108 , Issue.7 , pp. 2173-2181
    • Szpurka, H.1    Tiu, R.2    Murugesan, G.3    Aboudola, S.4    Hsi, E.D.5    Theil, K.S.6    Sekeres, M.A.7    Maciejewski, J.P.8
  • 24
    • 79960347715 scopus 로고    scopus 로고
    • The JAK2 exon 12 mutations: A comprehensive review
    • Scott LM. The JAK2 exon 12 mutations: a comprehensive review. Am J Hematol 2011;86:668-676.
    • (2011) Am J Hematol , vol.86 , pp. 668-676
    • Scott, L.M.1
  • 25
    • 40749093314 scopus 로고    scopus 로고
    • Jak2 FERM domain interaction with the erythropoietin receptor regulates Jak2 kinase activity
    • Funakoshi-Tago M, Pelletier S, Moritake H, et al. Jak2 FERM domain interaction with the erythropoietin receptor regulates Jak2 kinase activity. Mol Cell Biol 2008;28:1792-1801.
    • (2008) Mol Cell Biol , vol.28 , pp. 1792-1801
    • Funakoshi-Tago, M.1    Pelletier, S.2    Moritake, H.3
  • 26
    • 58849118941 scopus 로고    scopus 로고
    • Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias
    • Ma W, Kantarjian H, Zhang X, et al. Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias. J Mol Diagn 2009;11:49-53.
    • (2009) J Mol Diagn , vol.11 , pp. 49-53
    • Ma, W.1    Kantarjian, H.2    Zhang, X.3
  • 27
    • 84876789358 scopus 로고    scopus 로고
    • Rapid and sensitive detection and identification of JAK2 exon 12 mutations in V617F-negative myeloproliferative disorders by polymerase chain reaction
    • Kissimmee FL
    • Reading NS, GC, Prchal JT. Rapid and sensitive detection and identification of JAK2 exon 12 mutations in V617F-negative myeloproliferative disorders by polymerase chain reaction. Presented at Association for Molecular Pathology meeting. 2009. Kissimmee, FL.
    • Association for Molecular Pathology Meeting 2009
    • Reading, N.S.1    Prchal, J.T.G.C.2
  • 28
    • 77951724307 scopus 로고    scopus 로고
    • Detection of exon 12 mutations in the JAK2 gene: Enhanced analytical sensitivity using clamped PCR and nucleotide sequencing
    • Laughlin TS, Moliterno AR, Stein BL, et al. Detection of exon 12 mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing. J Mol Diagn 2010;12: 278-282.
    • (2010) J Mol Diagn , vol.12 , pp. 278-282
    • Laughlin, T.S.1    Moliterno, A.R.2    Stein, B.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.