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Volumn 12, Issue 5, 2012, Pages 511-526

Molecular diagnosis of leukemia

Author keywords

digital PCR; gene expression profiling; high resolution melt; leukemia; microarray; MLPA; RT qPCR; sequencing

Indexed keywords

ABELSON KINASE; B RAF KINASE; BCR ABL PROTEIN; CD135 ANTIGEN; DASATINIB; DNA; IMATINIB; JANUS KINASE 2; NILOTINIB; NUCLEIC ACID; NUCLEOPHOSMIN; PHENYLALANINE; PROTEIN TYROSINE KINASE INHIBITOR; RNA; STEM CELL FACTOR; TRANSCRIPTION FACTOR RUNX1; VALINE;

EID: 84862583874     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.12.44     Document Type: Review
Times cited : (10)

References (91)
  • 2
    • 43249130717 scopus 로고    scopus 로고
    • Flow cytometric immunophenotyping for haematologic neoplasms
    • Craig FE, Foon KA. Flow cytometric immunophenotyping for haematologic neoplasms. Blood 111(8), 3941-3967 (2008)
    • (2008) Blood , vol.111 , Issue.8 , pp. 3941-3967
    • Craig, F.E.1    Foon, K.A.2
  • 3
    • 68949213291 scopus 로고    scopus 로고
    • Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies
    • Maciejewski JP, Tiu RV, O'Keefe C. Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies. Br. J. Haematol. 146(5), 479-488 (2009)
    • (2009) Br. J. Haematol. , vol.146 , Issue.5 , pp. 479-488
    • MacIejewski, J.P.1    Tiu, R.V.2    O'keefe, C.3
  • 4
    • 77958531206 scopus 로고    scopus 로고
    • Acute myeloid leukemia diagnosis in the 21st century
    • Betz BL, Hess JL. Acute myeloid leukemia diagnosis in the 21st century. Arch. Pathol. Lab. Med. 134(10), 1427-1433 (2010)
    • (2010) Arch. Pathol. Lab. Med. , vol.134 , Issue.10 , pp. 1427-1433
    • Betz, B.L.1    Hess, J.L.2
  • 5
    • 77956518882 scopus 로고    scopus 로고
    • Impact of cytogenetics on clinical outcome in AML
    • Karp JE (Ed.). Humana Press, NY, USA
    • Grimwade D. Impact of cytogenetics on clinical outcome in AML. In: Acute Myelogenous Leukemia. Karp JE (Ed.). Humana Press, NY, USA 177-192 (2007)
    • (2007) Acute Myelogenous Leukemia , pp. 177-192
    • Grimwade, D.1
  • 6
    • 84255197306 scopus 로고    scopus 로고
    • Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML: Long-term observation of 1151 patients from the randomized CML study IV
    • Fabarius A, Leitner A, Hochhaus A et al.; Schweizerische Arbeitsgemeinschaft für Klinische Krebsforschung (SAKK) and the German CML study group. Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML: long-term observation of 1151 patients from the randomized CML study IV. Blood 118(26), 6760-6768 (2011)
    • (2011) Blood , vol.118 , Issue.26 , pp. 6760-6768
    • Fabarius, A.1    Leitner, A.2    Hochhaus, A.3
  • 7
    • 77957361896 scopus 로고    scopus 로고
    • Detection of prognostically relevant genetic abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia: Recommendations from the Biology and Diagnosis Committee of the International Berlin-Frankfürt-Münster study group
    • Harrison CJ, Haas O, Harbott J et al. Detection of prognostically relevant genetic abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia: recommendations from the Biology and Diagnosis Committee of the International Berlin-Frankfürt-Münster study group. Br. J. Haematol. 151(2), 132-142 (2010)
    • (2010) Br. J. Haematol. , vol.151 , Issue.2 , pp. 132-142
    • Harrison, C.J.1    Haas, O.2    Harbott, J.3
  • 9
    • 51649103380 scopus 로고    scopus 로고
    • Whole genome scanning as a cytogenetic tool in hematologic malignancies
    • Maciejewski JP, Mufti GJ. Whole genome scanning as a cytogenetic tool in hematologic malignancies. Blood 112(4), 965-974 (2008)
    • (2008) Blood , vol.112 , Issue.4 , pp. 965-974
    • MacIejewski, J.P.1    Mufti, G.J.2
  • 10
    • 58849096290 scopus 로고    scopus 로고
    • Customized oligonucleotide array-based comparative genomic hybridization as a clinical assay for genomic profiling of chronic lymphocytic leukemia
    • Sargent R, Jones D, Abruzzo LV et al. Customized oligonucleotide array-based comparative genomic hybridization as a clinical assay for genomic profiling of chronic lymphocytic leukemia. J. Mol. Diagn. 11, 25-34 (2009)
    • (2009) J. Mol. Diagn. , vol.11 , pp. 25-34
    • Sargent, R.1    Jones, D.2    Abruzzo, L.V.3
  • 11
    • 65549158870 scopus 로고    scopus 로고
    • The rewards and challenges of array-based karyotyping for clinical oncology applications
    • Hagenkord JM, Chang CC. The rewards and challenges of array-based karyotyping for clinical oncology applications. Leukemia 23(5), 829-833 (2009)
    • (2009) Leukemia , vol.23 , Issue.5 , pp. 829-833
    • Hagenkord, J.M.1    Chang, C.C.2
  • 12
    • 67349277730 scopus 로고    scopus 로고
    • Atypical 11q deletions identified by array CGH may be missed by FISH panels for prognostic markers in chronic lymphocytic leukemia
    • Gunn S, Hibbard M, Ismail S et al. Atypical 11q deletions identified by array CGH may be missed by FISH panels for prognostic markers in chronic lymphocytic leukemia. Leukemia 23, 1011-1017 (2009)
    • (2009) Leukemia , vol.23 , pp. 1011-1017
    • Gunn, S.1    Hibbard, M.2    Ismail, S.3
  • 13
    • 34848865991 scopus 로고    scopus 로고
    • High-resolution oligonucleotide array-CGH pinpoints genes involved in cryptic losses in chronic lymphocytic leukemia
    • DOI 10.1159/000106435
    • Tyybakinoja A, Vilpo J, Knuutila S. High-resolution oligonucleotide array-CGH pinpoints genes involved in cryptic losses in chronic lymphocytic leukemia. Cytogenet. Genome Res. 118(1), 8-12 (2007) (Pubitemid 47492006)
    • (2007) Cytogenetic and Genome Research , vol.118 , Issue.1 , pp. 8-12
    • Tyybakinoja, A.1    Vilpo, J.2    Knuutila, S.3
  • 14
    • 67549093672 scopus 로고    scopus 로고
    • Array CGH analysis of chronic lymphocytic leukemia reveals frequent cryptic monoallelic and biallelic deletions of chromosome 22q11 that include the PRAME gene
    • Gunn SR, Bolla AR, Barron LL et al. Array CGH analysis of chronic lymphocytic leukemia reveals frequent cryptic monoallelic and biallelic deletions of chromosome 22q11 that include the PRAME gene. Leuk. Res. 33(9), 1276-1281 (2009)
    • (2009) Leuk. Res. , vol.33 , Issue.9 , pp. 1276-1281
    • Gunn, S.R.1    Bolla, A.R.2    Barron, L.L.3
  • 15
    • 33645124451 scopus 로고    scopus 로고
    • Using high-throughput SNP technologies to study cancer
    • Engle LJ, Simpson CL, Landers JE. Using high-throughput SNP technologies to study cancer. Oncogene 25(11), 1594-1601 (2006)
    • (2006) Oncogene , vol.25 , Issue.11 , pp. 1594-1601
    • Engle, L.J.1    Simpson, C.L.2    Landers, J.E.3
  • 16
    • 79961059215 scopus 로고    scopus 로고
    • Array-based genomic screening at diagnosis and during follow-up in chronic lymphocytic leukemia
    • Gunnarsson R, Mansouri L, Isaksson A et al. Array-based genomic screening at diagnosis and during follow-up in chronic lymphocytic leukemia. Haematologica 96(8), 1161-1169 (2011)
    • (2011) Haematologica , vol.96 , Issue.8 , pp. 1161-1169
    • Gunnarsson, R.1    Mansouri, L.2    Isaksson, A.3
  • 17
    • 34447552512 scopus 로고    scopus 로고
    • Getting it right: Designing microarray (and not 'microawry') comparative genomic hybridization studies for cancer research
    • DOI 10.1038/labinvest.3700593, PII 3700593
    • Tan DS, Lambros MB, Natrajan R, Reis-Filho JS. Getting it right: designing microarray and not 'microawry' comparative genomic hybridization studies for cancer research. Lab. Invest. 87, 737-754 (2007) (Pubitemid 47077258)
    • (2007) Laboratory Investigation , vol.87 , Issue.8 , pp. 737-754
    • Tan, D.S.P.1    Lambros, M.B.K.2    Natrajan, R.3    Reis-Filho, J.S.4
  • 18
  • 20
    • 77950990572 scopus 로고    scopus 로고
    • Copy neutral loss of heterozygosity: A novel chromosomal lesion in myeloid malignancies
    • O'Keefe C, McDevitt MA, Maciejewski JP. Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies. Blood 115(14), 2731-2739 (2010)
    • (2010) Blood , vol.115 , Issue.14 , pp. 2731-2739
    • O'keefe, C.1    McDevitt, M.A.2    MacIejewski, J.P.3
  • 21
    • 12544257171 scopus 로고    scopus 로고
    • Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias
    • Raghavan M, Lillington DM, Skoulakis S et al. Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias. Cancer Res. 65, 375-378 (2005)
    • (2005) Cancer Res. , vol.65 , pp. 375-378
    • Raghavan, M.1    Lillington, D.M.2    Skoulakis, S.3
  • 22
    • 38949123096 scopus 로고    scopus 로고
    • Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML
    • DOI 10.1182/blood-2007-05-092304
    • Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski JP. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 111(3), 1534-1542 (2008) (Pubitemid 351213443)
    • (2008) Blood , vol.111 , Issue.3 , pp. 1534-1542
    • Gondek, L.P.1    Tiu, R.2    O'Keefe, C.L.3    Sekeres, M.A.4    Theil, K.S.5    Maciejewski, J.P.6
  • 23
    • 57749114621 scopus 로고    scopus 로고
    • 250K SNP array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies
    • Dunbar AJ, Gondek LP, O'Keefe CL et al. 250K SNP array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies Cancer Res. 68(24) 10349-10357 (2008)
    • (2008) Cancer Res , vol.68 , Issue.24 , pp. 10349-10357
    • Dunbar, A.J.1    Gondek, L.P.2    O'keefe, C.L.3
  • 24
    • 67650588639 scopus 로고    scopus 로고
    • Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms
    • Jankowska AM, Szpurka H, Tiu RV et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood 113(25), 6403-6410 (2009)
    • (2009) Blood , vol.113 , Issue.25 , pp. 6403-6410
    • Jankowska, A.M.1    Szpurka, H.2    Tiu, R.V.3
  • 27
    • 34249733805 scopus 로고    scopus 로고
    • High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression
    • DOI 10.1038/sj.leu.2404691, PII 2404691
    • Kuiper RP, Schoenmakers EF, van Reijmersdal SV et al. High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression. Leukemia 21(6), 1258-1266 (2007) (Pubitemid 46831815)
    • (2007) Leukemia , vol.21 , Issue.6 , pp. 1258-1266
    • Kuiper, R.P.1    Schoenmakers, E.F.P.M.2    Van Reijmersdal, S.V.3    Hehir-Kwa, J.Y.4    Van Kessel, A.G.5    Van Leeuwen, F.N.6    Hoogerbrugge, P.M.7
  • 28
    • 59449093453 scopus 로고    scopus 로고
    • A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, and association with specific cytogenetic subgroups
    • Sulong S, Moorman AV, Irving JA et al. A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, and association with specific cytogenetic subgroups. Blood 113(1), 100-107 (2009)
    • (2009) Blood , vol.113 , Issue.1 , pp. 100-107
    • Sulong, S.1    Moorman, A.V.2    Irving, J.A.3
  • 29
    • 77953631581 scopus 로고    scopus 로고
    • SNP array analysis in hematologic malignancies: Avoiding false discoveries
    • Heinrichs S, Li C, Look AT. SNP array analysis in hematologic malignancies: avoiding false discoveries. Blood 115(21), 4157-4161 (2010)
    • (2010) Blood , vol.115 , Issue.21 , pp. 4157-4161
    • Heinrichs, S.1    Li, C.2    Look, A.T.3
  • 30
    • 77955134007 scopus 로고    scopus 로고
    • Clinical utility of microarray-based gene expression profiling in the diagnosis and subclassification of leukemia: Report from the International Microarray Innovations in Leukemia Study Group
    • Haferlach T, Kohlmann A, Wieczorek L et al. Clinical utility of microarray-based gene expression profiling in the diagnosis and subclassification of leukemia: report from the International Microarray Innovations in Leukemia Study Group. J. Clin. Oncol. 28(15), 2529-2537 (2010)
    • (2010) J. Clin. Oncol. , vol.28 , Issue.15 , pp. 2529-2537
    • Haferlach, T.1    Kohlmann, A.2    Wieczorek, L.3
  • 32
    • 58849167390 scopus 로고    scopus 로고
    • A decade of genome-wide gene expression profiling in acute myeloid leukemia: Flashback and prospects
    • Wouters BJ, Löwenberg B, Delwel R. A decade of genome-wide gene expression profiling in acute myeloid leukemia: flashback and prospects. Blood 113(2), 291-298 (2009)
    • (2009) Blood , vol.113 , Issue.2 , pp. 291-298
    • Wouters, B.J.1    Löwenberg, B.2    Delwel, R.3
  • 34
    • 66149109199 scopus 로고    scopus 로고
    • Current status of gene expression profiling in the diagnosis and management of acute leukaemia
    • Bacher U, Kohlmann A, Haferlach T. Current status of gene expression profiling in the diagnosis and management of acute leukaemia. Br. J. Haematol. 145(5), 555-568 (2009)
    • (2009) Br. J. Haematol. , vol.145 , Issue.5 , pp. 555-568
    • Bacher, U.1    Kohlmann, A.2    Haferlach, T.3
  • 35
    • 79953122117 scopus 로고    scopus 로고
    • Pitfalls in molecular diagnosis in haemato-oncology
    • Mason J, Akiki S, Griffiths MJ. Pitfalls in molecular diagnosis in haemato-oncology. J. Clin. Pathol. 64(4), 275-278 (2011)
    • (2011) J. Clin. Pathol. , vol.64 , Issue.4 , pp. 275-278
    • Mason, J.1    Akiki, S.2    Griffiths, M.J.3
  • 36
    • 0032757710 scopus 로고    scopus 로고
    • Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease Report of the BIOMED-1 Concerted Action: Investigation of minimal residual disease in acute leukemia
    • van Dongen JJ, Macintyre EA, Gabert JA et al. Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia. Leukemia 13(12), 1901-1928 (1999)
    • (1999) Leukemia , vol.13 , Issue.12 , pp. 1901-1928
    • Van Dongen, J.J.1    MacIntyre, E.A.2    Gabert, J.A.3
  • 37
    • 24944534978 scopus 로고    scopus 로고
    • Real-time PCR for mRNA quantitation
    • Wong ML, Medrano JF. Real-time PCR for mRNA quantitation. Biotechniques 39(1), 75-85 (2005)
    • (2005) Biotechniques , vol.39 , Issue.1 , pp. 75-85
    • Wong, M.L.1    Medrano, J.F.2
  • 38
    • 64149097786 scopus 로고    scopus 로고
    • The MIQE guidelines: Minimum information for publication of quantitative real-time PCR experiments
    • Bustin SA, Benes V, Garson JA et al. The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin. Chem. 55(4), 611-622 (2009)
    • (2009) Clin. Chem. , vol.55 , Issue.4 , pp. 611-622
    • Bustin, S.A.1    Benes, V.2    Garson, J.A.3
  • 39
    • 0038040665 scopus 로고    scopus 로고
    • Detection of minimal residual disease in hematologic malignancies by real-time quantitative PCR: Principles, approaches, and laboratory aspects
    • DOI 10.1038/sj.leu.2402922
    • van der Velden VH, Hochhaus A, Cazzaniga G, Szczepanski T, Gabert J, van Dongen JJ. Detection of minimal residual disease in hematologic malignancies by real-time quantitative PCR: principles, approaches, and laboratory aspects. Leukemia 17(6), 1013-1034 (2003) (Pubitemid 36722231)
    • (2003) Leukemia , vol.17 , Issue.6 , pp. 1013-1034
    • Van Der Velden, V.H.J.1    Hochhaus, A.2    Cazzaniga, G.3    Szczepanski, T.4    Gabert, J.5    Van Dongen, J.J.M.6
  • 41
    • 80052566346 scopus 로고    scopus 로고
    • Defining the correct role of minimal residual disease tests in the management of acute lymphoblastic leukaemia
    • Cazzaniga G, Valsecchi MG, Gaipa G, Conter V, Biondi A. Defining the correct role of minimal residual disease tests in the management of acute lymphoblastic leukaemia. Br. J. Haematol. 155(1), 45-52 (2011)
    • (2011) Br. J. Haematol. , vol.155 , Issue.1 , pp. 45-52
    • Cazzaniga, G.1    Valsecchi, M.G.2    Gaipa, G.3    Conter, V.4    Biondi, A.5
  • 43
    • 65649143517 scopus 로고    scopus 로고
    • MRD detection in acute lymphoblastic leukemia patients using Ig/TCR gene rearrangements as targets for real-time quantitative PCR
    • van der Velden VH, van Dongen JJ. MRD detection in acute lymphoblastic leukemia patients using Ig/TCR gene rearrangements as targets for real-time quantitative PCR. Methods Mol. Biol. 538, 115-150 (2009)
    • (2009) Methods Mol. Biol. , vol.538 , pp. 115-150
    • Van Der Velden, V.H.1    Van Dongen, J.J.2
  • 45
    • 0037085750 scopus 로고    scopus 로고
    • Prognostic significance and modalities of flow cytometric minimal residual disease detection in childhood acute lymphoblastic leukemia
    • DOI 10.1182/blood.V99.6.1952
    • Dworzak MN, Fröschl G, Printz D et al. Austrian Berlin-Frankfurt- Münster Study Group. Prognostic significance and modalities of flow cytometric minimal residual disease detection in childhood acute lymphoblastic leukemia. Blood 99(6), 1952-1958 (2002) (Pubitemid 34525474)
    • (2002) Blood , vol.99 , Issue.6 , pp. 1952-1958
    • Dworzak, M.N.1    Froschl, G.2    Printz, D.3    Mann, G.4    Potschger, U.5    Muhlegger, N.6    Fritsch, G.7    Gadner, H.8
  • 46
    • 3543023204 scopus 로고    scopus 로고
    • Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
    • Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucl. Acids Res. 30(12), E57 (2002)
    • (2002) Nucl. Acids Res. , vol.30 , Issue.12
    • Schouten, J.P.1    McElgunn, C.J.2    Waaijer, R.3    Zwijnenburg, D.4    Diepvens, F.5    Pals, G.6
  • 47
    • 54049143861 scopus 로고    scopus 로고
    • Quantitative monitoring of cell clones carrying point mutations in the BCR-ABL tyrosine kinase domain by ligation-dependent polymerase chain reaction (LD-PCR)
    • Preuner S, Denk D, Frommlet F, Nesslboeck M, Lion T. Quantitative monitoring of cell clones carrying point mutations in the BCR-ABL tyrosine kinase domain by ligation-dependent polymerase chain reaction (LD-PCR). Leukemia 22(10), 1956-1961 (2008)
    • (2008) Leukemia , vol.22 , Issue.10 , pp. 1956-1961
    • Preuner, S.1    Denk, D.2    Frommlet, F.3    Nesslboeck, M.4    Lion, T.5
  • 49
    • 79955066374 scopus 로고    scopus 로고
    • Sensitive quantitation of minimal residual disease in chronic myeloid leukemia using nanofluidic digital polymerase chain reaction assay
    • Goh HG, Lin M, Fukushima T et al. Sensitive quantitation of minimal residual disease in chronic myeloid leukemia using nanofluidic digital polymerase chain reaction assay. Leuk. Lymphoma 52(5), 896-904 (2011)
    • (2011) Leuk. Lymphoma , vol.52 , Issue.5 , pp. 896-904
    • Goh, H.G.1    Lin, M.2    Fukushima, T.3
  • 50
    • 60149093892 scopus 로고    scopus 로고
    • Absolute quantitative detection of ABL tyrosine kinase domain point mutations in chronic myeloid leukemia using a novel nanofluidic platform and mutation-specific PCR
    • Oehler VG, Qin J, Ramakrishnan R et al. Absolute quantitative detection of ABL tyrosine kinase domain point mutations in chronic myeloid leukemia using a novel nanofluidic platform and mutation-specific PCR. Leukemia 23(2), 396-399 (2009)
    • (2009) Leukemia , vol.23 , Issue.2 , pp. 396-399
    • Oehler, V.G.1    Qin, J.2    Ramakrishnan, R.3
  • 52
    • 79952270487 scopus 로고    scopus 로고
    • Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantitative and highly sensitive real-time qPCR assay
    • Kristensen T, Vestergaard H, Møller MB. Improved detection of the KIT D816V mutation in patients with systemic mastocytosis using a quantitative and highly sensitive real-time qPCR assay. J. Mol. Diagn. 13(2), 180-188 (2011)
    • (2011) J. Mol. Diagn. , vol.13 , Issue.2 , pp. 180-188
    • Kristensen, T.1    Vestergaard, H.2    Møller, M.B.3
  • 53
    • 79952940017 scopus 로고    scopus 로고
    • COLD-PCR: Improving the sensitivity of molecular diagnostics assays
    • Milbury CA, Li J, Liu P, Makrigiorgos GM. COLD-PCR: improving the sensitivity of molecular diagnostics assays. Expert Rev. Mol. Diagn. 11(2), 159-169 (2011)
    • (2011) Expert Rev. Mol. Diagn. , vol.11 , Issue.2 , pp. 159-169
    • Milbury, C.A.1    Li, J.2    Liu, P.3    Makrigiorgos, G.M.4
  • 54
    • 43249116705 scopus 로고    scopus 로고
    • Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing
    • DOI 10.1038/nm1708, PII NM1708
    • Li J, Wang L, Mamon H, Kulke MH, Berbeco R, Makrigiorgos GM. Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing. Nat. Med. 14(5), 579-584 (2008) (Pubitemid 351655208)
    • (2008) Nature Medicine , vol.14 , Issue.5 , pp. 579-584
    • Li, J.1    Wang, L.2    Mamon, H.3    Kulke, M.H.4    Berbeco, R.5    Makrigiorgos, G.M.6
  • 55
    • 0033758958 scopus 로고    scopus 로고
    • FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group
    • Abu-Duhier FM, Goodeve AC, Wilson GA et al. FLT3 internal tandem duplication mutations in adult acute myeloid leukaemia define a high-risk group. Br. J. Haematol. 111(1), 190-195 (2000)
    • (2000) Br. J. Haematol. , vol.111 , Issue.1 , pp. 190-195
    • Abu-Duhier, F.M.1    Goodeve, A.C.2    Wilson, G.A.3
  • 59
    • 79959293462 scopus 로고    scopus 로고
    • BRAF mutations in hairy-cell leukemia
    • Tiacci E, Trifonov V, Schiavoni G et al. BRAF mutations in hairy-cell leukemia. N. Engl. J. Med. 364(24), 2305-2315 (2011)
    • (2011) N. Engl. J. Med. , vol.364 , Issue.24 , pp. 2305-2315
    • Tiacci, E.1    Trifonov, V.2    Schiavoni, G.3
  • 60
    • 84855597743 scopus 로고    scopus 로고
    • Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation
    • Tiacci E, Schiavoni G, Forconi F et al. Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation. Blood 119(1), 192-195 (2012)
    • (2012) Blood , vol.119 , Issue.1 , pp. 192-195
    • Tiacci, E.1    Schiavoni, G.2    Forconi, F.3
  • 62
    • 33748592820 scopus 로고    scopus 로고
    • JAK2 V617F in myeloid disorders: Molecular diagnostic techniques and their clinical utility: A paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology
    • DOI 10.2353/jmoldx.2006.060007
    • Steensma DP. JAK2 V617F in myeloid disorders: molecular diagnostic techniques and their clinical utility: a paper from the 2005 William Beaumont Hospital Symposium on molecular pathology. J. Mol. Diagn. 8(4), 397-411 (2006) (Pubitemid 44377920)
    • (2006) Journal of Molecular Diagnostics , vol.8 , Issue.4 , pp. 397-411
    • Steensma, D.P.1
  • 63
    • 54349094747 scopus 로고    scopus 로고
    • Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis
    • Jones AV, Cross NC, White HE, Green AR, Scott LM. Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis. Haematologica 93(10), 1560-1564 (2008)
    • (2008) Haematologica , vol.93 , Issue.10 , pp. 1560-1564
    • Jones, A.V.1    Cross, N.C.2    White, H.E.3    Green, A.R.4    Scott, L.M.5
  • 64
    • 81155148175 scopus 로고    scopus 로고
    • High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies
    • Boyd EM, Bench AJ, van't Veer MB et al. High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies. Br. J. Haematol. 155(5), 609-612 (2011)
    • (2011) Br. J. Haematol. , vol.155 , Issue.5 , pp. 609-612
    • Boyd, E.M.1    Bench, A.J.2    Van't Veer, M.B.3
  • 65
    • 77449157068 scopus 로고    scopus 로고
    • Quantitative DNA methylation predicts survival in adult acute myeloid leukemia
    • Bullinger L, Ehrich M, Döhner K et al. Quantitative DNA methylation predicts survival in adult acute myeloid leukemia. Blood 115(3), 636-642 (2010)
    • (2010) Blood , vol.115 , Issue.3 , pp. 636-642
    • Bullinger, L.1    Ehrich, M.2    Döhner, K.3
  • 66
    • 84859216321 scopus 로고    scopus 로고
    • Pyrosequencing of BRAF V600E in routine samples of hairy cell leukaemia identifies CD5+ variant hairy cell leukaemia that lacks V600E
    • Lennerz JK, Klaus BM, Marienfeld RB, Möller P. Pyrosequencing of BRAF V600E in routine samples of hairy cell leukaemia identifies CD5+ variant hairy cell leukaemia that lacks V600E. Br. J. Haematol. 157(2), 267-269 (2011)
    • (2011) Br. J. Haematol. , vol.157 , Issue.2 , pp. 267-269
    • Lennerz, J.K.1    Klaus, B.M.2    Marienfeld, R.B.3    Möller, P.4
  • 67
    • 34250706238 scopus 로고    scopus 로고
    • Quantitative profiling of codon 816 KIT mutations can aid in the classification of systemic mast cell disease [8]
    • DOI 10.1038/sj.leu.2404680, PII 2404680
    • Zhao W, Bueso-Ramos CE, Verstovsek S, Barkoh BA, Khitamy AA, Jones D. Quantitative profiling of codon 816 KIT mutations can aid in the classification of systemic mast cell disease. Leukemia 21(7), 1574-1576 (2007) (Pubitemid 46965305)
    • (2007) Leukemia , vol.21 , Issue.7 , pp. 1574-1576
    • Zhao, W.1    Bueso-Ramos, C.E.2    Verstovsek, S.3    Barkoh, B.A.4    Khitamy, A.A.5    Jones, D.6
  • 68
    • 84857046092 scopus 로고    scopus 로고
    • BCR-ABL1 kinase domain mutations: Methodology and clinical evaluation
    • Alikian M, Gerrard G, Subramanian PG et al. BCR-ABL1 kinase domain mutations: methodology and clinical evaluation. Am. J. Hematol. 87(3), 298-304 (2011)
    • (2011) Am. J. Hematol. , vol.87 , Issue.3 , pp. 298-304
    • Alikian, M.1    Gerrard, G.2    Subramanian, P.G.3
  • 69
    • 53649106195 scopus 로고    scopus 로고
    • Next-generation DNA sequencing
    • Shendure J, Ji H. Next-generation DNA sequencing. Nat. Biotechnol. 26(10), 1135-1145 (2008)
    • (2008) Nat. Biotechnol. , vol.26 , Issue.10 , pp. 1135-1145
    • Shendure, J.1    Ji, H.2
  • 70
    • 55949095205 scopus 로고    scopus 로고
    • Keeping up with the next generation: Massively parallel sequencing in clinical diagnostics
    • ten Bosch JR, Grody WW. Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J. Mol. Diagn. 10(6), 484-492 (2008)
    • (2008) J. Mol. Diagn. , vol.10 , Issue.6 , pp. 484-492
    • Ten Bosch, J.R.1    Grody, W.W.2
  • 71
    • 72849144434 scopus 로고    scopus 로고
    • Sequencing technologies - The next generation
    • Metzker ML. Sequencing technologies - the next generation. Nat. Rev. Genet. 11(1), 31-46 (2010)
    • (2010) Nat. Rev. Genet. , vol.11 , Issue.1 , pp. 31-46
    • Metzker, M.L.1
  • 72
    • 79953826567 scopus 로고    scopus 로고
    • Next-generation sequencing and its applications in molecular diagnostics
    • Su Z, Ning B, Fang H et al. Next-generation sequencing and its applications in molecular diagnostics. Expert Rev. Mol. Diagn. 11(3), 333-343 (2011)
    • (2011) Expert Rev. Mol. Diagn. , vol.11 , Issue.3 , pp. 333-343
    • Su, Z.1    Ning, B.2    Fang, H.3
  • 73
    • 79955765689 scopus 로고    scopus 로고
    • Next-generation sequencing applied to molecular diagnostics
    • Natrajan R, Reis-Filho JS. Next-generation sequencing applied to molecular diagnostics. Expert Rev. Mol. Diagn. 11(4), 425-444 (2011)
    • (2011) Expert Rev. Mol. Diagn. , vol.11 , Issue.4 , pp. 425-444
    • Natrajan, R.1    Reis-Filho, J.S.2
  • 74
    • 80053508491 scopus 로고    scopus 로고
    • Whole cancer genome sequencing by next-generation methods
    • Ross JS, Cronin M. Whole cancer genome sequencing by next-generation methods. Am. J. Clin. Pathol. 136(4), 527-539 (2011)
    • (2011) Am. J. Clin. Pathol. , vol.136 , Issue.4 , pp. 527-539
    • Ross, J.S.1    Cronin, M.2
  • 75
    • 55549101623 scopus 로고    scopus 로고
    • DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
    • Ley TJ, Mardis ER, Ding L et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456, 66-72 (2008)
    • (2008) Nature , vol.456 , pp. 66-72
    • Ley, T.J.1    Mardis, E.R.2    Ding, L.3
  • 76
    • 70149093912 scopus 로고    scopus 로고
    • Recurring mutations found by sequencing an acute myeloid leukemia genome
    • Mardis ER, Ding L, Dooling DJ et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N. Engl. J. Med. 361, 1058-1066 (2009)
    • (2009) N. Engl. J. Med. , vol.361 , pp. 1058-1066
    • Mardis, E.R.1    Ding, L.2    Dooling, D.J.3
  • 77
    • 77957771067 scopus 로고    scopus 로고
    • IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status
    • Schnittger S, Haferlach C, Ulke M, Alpermann T, Kern W, Haferlach T. IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status. Blood 116(25), 5486-5496 (2010)
    • (2010) Blood , vol.116 , Issue.25 , pp. 5486-5496
    • Schnittger, S.1    Haferlach, C.2    Ulke, M.3    Alpermann, T.4    Kern, W.5    Haferlach, T.6
  • 78
    • 77954089584 scopus 로고    scopus 로고
    • Array-based genomic resequencing of human leukemia
    • Yamashita Y, Yuan J, Suetake I et al. Array-based genomic resequencing of human leukemia. Oncogene 29(25), 3723-3731 (2010)
    • (2010) Oncogene , vol.29 , Issue.25 , pp. 3723-3731
    • Yamashita, Y.1    Yuan, J.2    Suetake, I.3
  • 79
    • 78649906060 scopus 로고    scopus 로고
    • DNMT3A mutations in acute myeloid leukemia
    • Ley TJ, Ding L, Walter MJ et al. DNMT3A mutations in acute myeloid leukemia. N. Engl. J. Med. 363(25), 2424-2243 (2010)
    • (2010) N. Engl. J. Med. , vol.363 , Issue.25 , pp. 2424-2243
    • Ley, T.J.1    Ding, L.2    Walter, M.J.3
  • 80
    • 79953176952 scopus 로고    scopus 로고
    • Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia
    • Yan XJ, Xu J, Gu ZH et al. Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nat. Genet. 43(4), 309-315 (2011)
    • (2011) Nat. Genet. , vol.43 , Issue.4 , pp. 309-315
    • Yan, X.J.1    Xu, J.2    Gu, Z.H.3
  • 81
    • 84862776906 scopus 로고    scopus 로고
    • Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
    • Ding L, Ley TJ, Larson DE et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 481(7382), 506-510 (2012)
    • (2012) Nature , vol.481 , Issue.7382 , pp. 506-510
    • Ding, L.1    Ley, T.J.2    Larson, D.E.3
  • 82
    • 84863337617 scopus 로고    scopus 로고
    • Clonal architecture of secondary acute myeloid leukemia
    • Walter MJ, Shen D, Ding L et al. Clonal architecture of secondary acute myeloid leukemia. N. Engl. J. Med. 366(12), 1090-1098 (2012)
    • (2012) N. Engl. J. Med. , vol.366 , Issue.12 , pp. 1090-1098
    • Walter, M.J.1    Shen, D.2    Ding, L.3
  • 83
    • 79960036578 scopus 로고    scopus 로고
    • Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
    • Puente XS, Pinyol M, Quesada V et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 475(7354), 101-105 (2011)
    • (2011) Nature , vol.475 , Issue.7354 , pp. 101-105
    • Puente, X.S.1    Pinyol, M.2    Quesada, V.3
  • 84
    • 84855370035 scopus 로고    scopus 로고
    • SF3B1 and other novel cancer genes in chronic lymphocytic leukemia
    • Wang L, Lawrence MS, Wan Y et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N. Engl. J. Med. 365(26), 2497-2506 (2011)
    • (2011) N. Engl. J. Med. , vol.365 , Issue.26 , pp. 2497-2506
    • Wang, L.1    Lawrence, M.S.2    Wan, Y.3
  • 86
    • 79952254129 scopus 로고    scopus 로고
    • Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology
    • Grossmann V, Schnittger S, Schindela S et al. Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology. J. Mol. Diagn. 13(2), 129-136 (2011)
    • (2011) J. Mol. Diagn. , vol.13 , Issue.2 , pp. 129-136
    • Grossmann, V.1    Schnittger, S.2    Schindela, S.3
  • 87
    • 83555166249 scopus 로고    scopus 로고
    • The Interlaboratory Robustness of Next-Generation Sequencing (IRON) study: A deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories
    • Kohlmann A, Klein HU, Weissmann S et al. The Interlaboratory Robustness of Next-Generation Sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories. Leukemia 25(12), 1840-1848 (2011)
    • (2011) Leukemia , vol.25 , Issue.12 , pp. 1840-1848
    • Kohlmann, A.1    Klein, H.U.2    Weissmann, S.3
  • 88
    • 84859398686 scopus 로고    scopus 로고
    • Genomics of AML: Clinical applications of next-generation sequencing
    • Welch JS, Link DC. Genomics of AML: clinical applications of next-generation sequencing. Hematol. Am. Soc. Hematol. Educ. Program. 2011, 30-35 (2011)
    • (2011) Hematol. Am. Soc. Hematol. Educ. Program. , vol.2011 , pp. 30-35
    • Welch, J.S.1    Link, D.C.2
  • 89
    • 80052701593 scopus 로고    scopus 로고
    • Molecular diagnostics: Harmonization through reference materials, documentary standards and proficiency testing
    • Holden MJ, Madej RM, Minor P, Kalman LV. Molecular diagnostics: harmonization through reference materials, documentary standards and proficiency testing. Expert Rev. Mol. Diagn. 11(7), 741-755 (2011)
    • (2011) Expert Rev. Mol. Diagn. , vol.11 , Issue.7 , pp. 741-755
    • Holden, M.J.1    Madej, R.M.2    Minor, P.3    Kalman, L.V.4
  • 90
    • 84863393263 scopus 로고    scopus 로고
    • Prognostic relevance of integrated genetic profiling in acute myeloid leukemia
    • Patel JP, Gönen M, Figueroa ME et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N. Engl. J. Med. 366(12), 1079-1089 (2012)
    • (2012) N. Engl. J. Med. , vol.366 , Issue.12 , pp. 1079-1089
    • Patel, J.P.1    Gönen, M.2    Figueroa, M.E.3
  • 91
    • 84858638813 scopus 로고    scopus 로고
    • Profiles in leukemia
    • Godley LA. Profiles in leukemia. N. Engl. J. Med. 366(12), 1152-1153 (2012).
    • (2012) N. Engl. J. Med. , vol.366 , Issue.12 , pp. 1152-1153
    • Godley, L.A.1


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