메뉴 건너뛰기




Volumn 135, Issue 6, 2011, Pages 921-928

A comparative analysis of molecular genetic and conventional cytogenetic detection of diagnostically important translocations in more than 400 cases of acute leukemia, highlighting the frequency of false-negative conventional cytogenetics

Author keywords

Acute leukemia; Complementary; Cytogenetics; False negative; Molecular; Multiplex; Reverse transcriptase polymerase chain reaction; RT PCR; Translocations

Indexed keywords

AFF1 PROTEIN; BCR ABL PROTEIN; CBFB PROTEIN; MIXED LINEAGE LEUKEMIA PROTEIN; MYH11 PROTEIN; PROMYELOCYTIC LEUKEMIA PROTEIN; RARA PROTEIN; TRANSCRIPTION FACTOR 7 LIKE 1; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR PBX1; TRANSCRIPTION FACTOR RUNX1; TRANSCRIPTION FACTOR RUNX1T1; UNCLASSIFIED DRUG;

EID: 79957701784     PISSN: 00029173     EISSN: 19437722     Source Type: Journal    
DOI: 10.1309/AJCPJCW6BY0CNIHD     Document Type: Article
Times cited : (26)

References (45)
  • 2
    • 34249340637 scopus 로고    scopus 로고
    • Chromosome aberrations, gene mutations and expression changes, and prognosis in adult acute myeloid leukemia
    • Mrózek K, Bloomfield CD. Chromosome aberrations, gene mutations and expression changes, and prognosis in adult acute myeloid leukemia. Hematology Am Soc Hematol Educ Program. 2006:169-177.
    • (2006) Hematology Am Soc Hematol Educ Program , pp. 169-177
    • Mrózek, K.1    Bloomfield, C.D.2
  • 3
    • 0034672269 scopus 로고    scopus 로고
    • Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: A Southwest Oncology Group/Eastern Cooperative Oncology Group Study
    • Slovak ML, Kopecky KJ, Cassileth PA, et al. Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group Study. Blood. 2000;96:4075-4083.
    • (2000) Blood , vol.96 , pp. 4075-4083
    • Slovak, M.L.1    Kopecky, K.J.2    Cassileth, P.A.3
  • 6
    • 0032188805 scopus 로고    scopus 로고
    • The importance of diagnostic cytogenetics on outcome in AML: Analysis of 1,612 patients entered into the MRC AML 10 trial
    • for the Medical Research Council Adult and Children's Leukaemia Working Parties
    • Grimwade D, Walker H, Oliver F, et al; for the Medical Research Council Adult and Children's Leukaemia Working Parties. The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. Blood. 1998;92:2322-2333.
    • (1998) Blood , vol.92 , pp. 2322-2333
    • Grimwade, D.1    Walker, H.2    Oliver, F.3
  • 7
    • 12144286722 scopus 로고    scopus 로고
    • Cytogenetics in acute leukemia
    • DOI 10.1016/S0268-960X(03)00040-7
    • Mrózek K, Heerema NA, Bloomfield CD. Cytogenetics in acute leukemia. Blood Rev. 2004;18:115-136. (Pubitemid 38380667)
    • (2004) Blood Reviews , vol.18 , Issue.2 , pp. 115-136
    • Mrozek, K.1    Heerema, N.A.2    Bloomfield, C.D.3
  • 8
    • 0028225825 scopus 로고
    • Acute promyelocytic leukemia: A paradigm for differentiation therapy with retinoic acid
    • Tellman MS, Rowe JM. Acute promyelocytic leukemia: a paradigm for differentiation therapy with retinoic acid. Blood Rev. 1994;8:70-78.
    • (1994) Blood Rev , vol.8 , pp. 70-78
    • Tellman, M.S.1    Rowe, J.M.2
  • 9
    • 4344623889 scopus 로고    scopus 로고
    • Imatinib as a paradigm of targeted therapies
    • DOI 10.1016/S0065-230X(04)91001-9, PII S0065230X04910019
    • Druker BJ. Imatinib as a paradigm of targeted therapies. Adv Cancer Res. 2004;91:1-30. (Pubitemid 39140955)
    • (2004) Advances in Cancer Research , vol.91 , pp. 1-30
    • Druker, B.J.1
  • 10
    • 1842614240 scopus 로고    scopus 로고
    • Repetitive cycles of high-dose cytarabine benefit patients with acute myeloid leukemia and inv(16)(p13q22) or t(16;16)(p13;q22): Results from CALGB 8461
    • Byrd JC, Ruppert AS, Mrózek K, et al. Repetitive cycles of high-dose cytarabine benefit patients with acute myeloid leukemia and inv(16)(p13q22) or t(16;16)(p13;q22): results from CALGB 8461. J Clin Oncol. 2004;22:1087-1094.
    • (2004) J Clin Oncol , vol.22 , pp. 1087-1094
    • Byrd, J.C.1    Ruppert, A.S.2    Mrózek, K.3
  • 11
    • 0032793987 scopus 로고    scopus 로고
    • Patients with t(8;21) (q22;q22) and acute myeloid leukemia have superior failure-free and overall survival when repetitive cycles of high-dose cytarabine are administered
    • Byrd JC, Dodge RK, Carroll AJ, et al. Patients with t(8;21) (q22;q22) and acute myeloid leukemia have superior failure-free and overall survival when repetitive cycles of high-dose cytarabine are administered. J Clin Oncol. 1999;17:3767-3775.
    • (1999) J Clin Oncol , vol.17 , pp. 3767-3775
    • Byrd, J.C.1    Dodge, R.K.2    Carroll, A.J.3
  • 12
    • 0037409182 scopus 로고    scopus 로고
    • The molecular pathogenesis of acute promyelocytic leukaemia: Implications for the clinical management of the disease
    • DOI 10.1016/S0268-960X(02)00075-9
    • Mistry AR, Pederson EW, Solomon E, et al. The molecular pathogenesis of acute promyelocytic leukemia: implications for the clinical management of the disease. Blood Rev. 2003;17:71-97. (Pubitemid 36372973)
    • (2003) Blood Reviews , vol.17 , Issue.2 , pp. 71-97
    • Mistry, A.R.1    Pedersen, E.W.2    Solomon, E.3    Grimwade, D.4
  • 13
    • 0042388258 scopus 로고    scopus 로고
    • Value of combined morphologic, cytochemical, and immunophenotypic features in predicting recurrent cytogenetic abnormalities in acute myeloid leukemia
    • Arber DA, Carter NH, Ikle D, et al. Value of combined morphologic, cytochemical, and immunophenotypic features in predicting recurrent cytogenetic abnormalities in acute myeloid leukemia. Hum Pathol. 2003;34:809-813.
    • (2003) Hum Pathol , vol.34 , pp. 809-813
    • Arber, D.A.1    Carter, N.H.2    Ikle, D.3
  • 14
    • 85047688311 scopus 로고    scopus 로고
    • Prognostic impact of acute myeloid leukemia classification: Importance of detection of recurring cytogenetic abnormalities and multilineage dysplasia on survival
    • DOI 10.1309/EM7K-CQR4-GLMH-RCX4
    • Arber DA, Stein AS, Carter NH, et al. Prognostic impact of acute myeloid leukemia classification: importance of detection of recurring cytogenetic abnormalities and multilineage dysplasia on survival. Am J Clin Pathol. 2003;119:672-680. (Pubitemid 37046388)
    • (2003) American Journal of Clinical Pathology , vol.119 , Issue.5 , pp. 672-680
    • Arber, D.A.1    Stein, A.S.2    Carter, N.H.3    Ikle, D.4    Forman, S.J.5    Slovak, M.L.6
  • 17
    • 79957730986 scopus 로고    scopus 로고
    • Accessed July 30, 2010
    • Association for Molecular Pathology. AMP test directory. http://www.amptestdirectory.org. Accessed July 30, 2010.
    • AMP Test Directory
  • 19
    • 0035254208 scopus 로고    scopus 로고
    • Multiplex reverse transcriptase-polymerase chain reaction screening in childhood acute myeloblastic leukemia
    • DOI 10.1182/blood.V97.3.805
    • Strehl S, Konig M, Mann G, et al. Multiplex reverse transcriptase- polymerase chain reaction screening in childhood acute myeloblastic leukemia. Blood. 2001;97:805-808. (Pubitemid 32113417)
    • (2001) Blood , vol.97 , Issue.3 , pp. 805-808
    • Strehl, S.1    Konig, M.2    Mann, G.3    Haas, O.A.4
  • 20
    • 0034981713 scopus 로고    scopus 로고
    • The detection and significance of chromosomal abnormalities in childhood acute lymphoblastic leukaemia
    • DOI 10.1054/blre.2001.0150
    • Harrison CJ. The detection and significance of chromosomal abnormalities in childhood acute lymphoblastic leukemia. Blood Rev. 2001;15:49-59. (Pubitemid 32506071)
    • (2001) Blood Reviews , vol.15 , Issue.1 , pp. 49-59
    • Harrison, C.J.1
  • 21
    • 0028153771 scopus 로고
    • An optimized multiplex polymerase chain reaction (PCR) for detection of BCR-ABL fusion mRNAs in haematological disorders
    • Cross NC, Melo JV, Feng L, et al. An optimized multiplex polymerase chain reaction (PCR) for detection of BCR-ABL fusion mRNAs in haematological disorders. Leukemia. 1994;8:186-189. (Pubitemid 24032839)
    • (1994) Leukemia , vol.8 , Issue.1 , pp. 186-189
    • Cross, N.C.P.1    Melo, J.V.2    Feng, L.3    Goldman, J.M.4
  • 22
    • 0028938999 scopus 로고
    • Detection of four different 11q23 chromosomal abnormalities by multiplex-PCR and fluorescence based automatic DNA-fragment analysis
    • Repp R, Borkhardt A, Haupt E, et al. Detection of four different 11q23 chromosomal abnormalities by multiplex-PCR and fluorescence based automatic DNA-fragment analysis. Leukemia. 1995;9:210-215.
    • (1995) Leukemia , vol.9 , pp. 210-215
    • Repp, R.1    Borkhardt, A.2    Haupt, E.3
  • 24
    • 0031057224 scopus 로고    scopus 로고
    • Frequency of CBFβ/MYH11 fusion transcripts in patients entered into the UK MRC AML trials
    • for the MRC Adult Leukaemia Working Party
    • Langabeer SE, Walker H, Gale RE, et al, for the MRC Adult Leukaemia Working Party. Frequency of CBFβ/MYH11 fusion transcripts in patients entered into the UK MRC AML trials. Br J Haematol. 1997;96:736-739.
    • (1997) Br J Haematol , vol.96 , pp. 736-739
    • Langabeer, S.E.1    Walker, H.2    Gale, R.E.3
  • 25
    • 73949159219 scopus 로고    scopus 로고
    • Karyotyping, FISH, and PCR in acute lymphoblastic leukemia: Competing or complementary diagnostics?
    • Nordkamp LO, Mellink C, van der Schoot E, et al. Karyotyping, FISH, and PCR in acute lymphoblastic leukemia: competing or complementary diagnostics? J Pediatr Hematol Oncol. 2009;31:930-935.
    • (2009) J Pediatr Hematol Oncol , vol.31 , pp. 930-935
    • Nordkamp, L.O.1    Mellink, C.2    Van Der Schoot, E.3
  • 26
    • 77249123492 scopus 로고    scopus 로고
    • Multiplex fluorescence in situ hybridization in identifying chromosome involvement of complex karyotypes in de novo myelodysplastic syndromes and acute myeloid leukemia
    • Xu W, Li JY, Liu Q, et al. Multiplex fluorescence in situ hybridization in identifying chromosome involvement of complex karyotypes in de novo myelodysplastic syndromes and acute myeloid leukemia. Int J Lab Hematol. 2010;32:86-95.
    • (2010) Int J Lab Hematol , vol.32 , pp. 86-95
    • Xu, W.1    Li, J.Y.2    Liu, Q.3
  • 27
    • 0035047755 scopus 로고    scopus 로고
    • Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence in situ hybridization
    • DOI 10.1046/j.1365-2141.2001.02630.x
    • Jalal SM, Law ME, Stamberg J, et al. Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence in situ hybridization. Br J Haematol. 2001;112:975-980. (Pubitemid 32322925)
    • (2001) British Journal of Haematology , vol.112 , Issue.4 , pp. 975-980
    • Jalal, S.M.1    Law, M.E.2    Stamberg, J.3    Fonseca, R.4    Seely, J.R.5    Myers, W.H.6    Hanson, C.A.7
  • 28
    • 0032747290 scopus 로고    scopus 로고
    • Multipaint FISH: A rapid and reliable way to define cryptic and complex abnormalities
    • DOI 10.1034/j.1399-0004.1999.560303.x
    • Joyce CA, Ross FM, Dennis NR, et al. Multipaint FISH: a rapid and reliable way to define cryptic and complex abnormalities. Clin Genet. 1999;56:192-199. (Pubitemid 29494817)
    • (1999) Clinical Genetics , vol.56 , Issue.3 , pp. 192-199
    • Joyce, C.A.1    Ross, F.M.2    Dennis, N.R.3    Wyre, N.D.4    Barber, J.C.K.5
  • 29
    • 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. 1999;13:1901-1928.
    • (1999) Leukemia , vol.13 , pp. 1901-1928
    • Van Dongen, J.J.1    Macintyre, E.A.2    Gabert, J.A.3
  • 30
    • 33644985509 scopus 로고    scopus 로고
    • Prognostic value of minimal residual disease (MRD) in acute myeloid leukemia (AML) with favorable cytogenetics [t(8;21) and inv(16)]
    • Perea G, Lasa A, Aventin A, et al. Prognostic value of minimal residual disease (MRD) in acute myeloid leukemia (AML) with favorable cytogenetics [t(8;21) and inv(16)]. Leukemia. 2006;20:87-94.
    • (2006) Leukemia , vol.20 , pp. 87-94
    • Perea, G.1    Lasa, A.2    Aventin, A.3
  • 31
    • 78649293176 scopus 로고    scopus 로고
    • Molecular diagnosis of acute myeloid leukemia
    • Watt CD, Bagg A. Molecular diagnosis of acute myeloid leukemia. Expert Rev Mol Diagn. 2010;10:993-1012.
    • (2010) Expert Rev Mol Diagn , vol.10 , pp. 993-1012
    • Watt, C.D.1    Bagg, A.2
  • 32
    • 0242439363 scopus 로고    scopus 로고
    • Multiplex RT-PCR for the detection of leukemia-associated translocations
    • Salto-Tellez M, Shelat SG, Benoit B, et al. Multiplex RT-PCR for the detection of leukemia-associated translocations. J Mol Diagn. 2003;5:231-236.
    • (2003) J Mol Diagn , vol.5 , pp. 231-236
    • Salto-Tellez, M.1    Shelat, S.G.2    Benoit, B.3
  • 33
    • 79957678598 scopus 로고    scopus 로고
    • Rapid leukemia subtyping by liquid bead array: Clinical assessment of Signature LTx
    • abstract
    • Weatherill CR, Bagg A, Nielsen D, et al. Rapid leukemia subtyping by liquid bead array: clinical assessment of Signature LTx [abstract]. J Mol Diagn. 2005;7:647.
    • (2005) J Mol Diagn , vol.7 , pp. 647
    • Weatherill, C.R.1    Bagg, A.2    Nielsen, D.3
  • 35
    • 32844457515 scopus 로고    scopus 로고
    • Minimal residual core binding factor AMLs by real time quantitative PCR - Initial response to chemotherapy predicts event free survival and close monitoring of peripheral blood unravels the kinetics of relapse
    • DOI 10.1016/j.leukres.2005.08.030, PII S0145212605003334
    • Stentoft J, Hokland P, Ostergaard M, et al. Minimal residual core binding factor AMLs by real time quantitative PCR: initial response to chemotherapy predicts event free survival and close monitoring of peripheral blood unravels the kinetics of relapse. Leuk Res. 2006;30:389-395. (Pubitemid 43254960)
    • (2006) Leukemia Research , vol.30 , Issue.4 , pp. 389-395
    • Stentoft, J.1    Hokland, P.2    Ostergaard, M.3    Hasle, H.4    Nyvold, C.G.5
  • 36
    • 22544480837 scopus 로고    scopus 로고
    • Multiplex reverse transcription polymerase chain reaction screening in acute myeloid leukemia detects cytogenetically unrevealed abnormalities of prognostic significance
    • Hutchings-Hoffmann M, Wirenfeldt Klausen T, Hasle H, et al. Multiplex reverse transcription polymerase chain reaction screening in acute myeloid leukemia detects cytogenetically unrevealed abnormalities of prognostic significance. Haematologica. 2005;90:984-986. (Pubitemid 41020305)
    • (2005) Haematologica , vol.90 , Issue.7 , pp. 984-986
    • Hoffmann, M.H.1    Klausen, T.W.2    Hasle, H.3    Schmiegelow, K.4    Brondum-Nielsen, K.5    Johnsen, H.E.6
  • 37
    • 66349085066 scopus 로고    scopus 로고
    • Identification of PML/RARα fusion gene transcripts that showed no t(15;17) with conventional karyotyping and fluorescent in situ hybridization
    • Choughule A, Polampalli S, Amre P, et al. Identification of PML/RARα fusion gene transcripts that showed no t(15;17) with conventional karyotyping and fluorescent in situ hybridization. Genet Mol Res. 2009;8:1-7.
    • (2009) Genet Mol Res , vol.8 , pp. 1-7
    • Choughule, A.1    Polampalli, S.2    Amre, P.3
  • 39
    • 4944246888 scopus 로고    scopus 로고
    • Prospective application of a multiplex reverse transcription-polymerase chain reaction assay for the detection of balanced translocations in leukaemia: A single-laboratory study of 390 paediatric and adult patients
    • DOI 10.1111/j.1365-2141.2004.05161.x
    • Olesen LH, Clausen N, Dimitrijevic A, et al. Prospective application of a multiplex reverse transcription-polymerase chain reaction assay for the detection of balanced translocations in leukaemia: a single-laboratory study of 390 paediatric and adult patients. Br J Haematol. 2004;127:59-66. (Pubitemid 39331107)
    • (2004) British Journal of Haematology , vol.127 , Issue.1 , pp. 59-66
    • Olesen, L.H.1    Clausen, N.2    Dimitrijevic, A.3    Kerndrup, G.4    Kjeldsen, E.5    Hokland, P.6
  • 40
    • 0033912877 scopus 로고    scopus 로고
    • Low curative potential of bone marrow transplantation for highly aggressive acute myelogenous leukemia with inversion inv (3) (q21q26) or homologous translocation t(3;3)(q21;q26)
    • Reiter E, Greinix H, Rabitsch W, et al. Low curative potential of bone marrow transplantation for highly aggressive acute myelogenous leukemia with inversion inv (3) (q21q26) or homologous translocation t(3;3)(q21;q26). Ann Hematol. 2000;79:374-377.
    • (2000) Ann Hematol , vol.79 , pp. 374-377
    • Reiter, E.1    Greinix, H.2    Rabitsch, W.3
  • 42
    • 0037232260 scopus 로고    scopus 로고
    • Acute megakaryoblastic leukaemia: A national clinical and biological study of 53 adult and childhood cases by the Groupe Français d'Hématologie Cellulaire (GFHC)
    • DOI 10.1080/1042819021000040279
    • Duchayne E, Fenneteau O, Pages MP, et al. Acute megakaryoblastic leukemia: a national clinical and biological study of 53 adult and childhood cases by the group Français d'Hematologie Cellulaire (GFHC). Leuk Lymphoma. 2003;44:49-58. (Pubitemid 36113829)
    • (2003) Leukemia and Lymphoma , vol.44 , Issue.1 , pp. 49-58
    • Duchayne, E.1    Fenneteau, O.2    Pages, M.-P.3    Sainty, D.4    Arnoulet, C.5    Dastugue, N.6    Garand, R.7    Flandrin, G.8
  • 43
    • 55549120204 scopus 로고    scopus 로고
    • Acute myelogenous leukemia with t(6;9)(p23;q34) and marrow basophilia: An overview
    • Chi Y, Lindgren V, Quigley S, et al. Acute myelogenous leukemia with t(6;9)(p23;q34) and marrow basophilia: an overview. Arch Pathol Lab Med. 2008;132:1835-1837.
    • (2008) Arch Pathol Lab Med , vol.132 , pp. 1835-1837
    • Chi, Y.1    Lindgren, V.2    Quigley, S.3
  • 44
    • 33846230449 scopus 로고    scopus 로고
    • Clinical relevance of mutations and gene expression changes in adult acute myeloid leukemia with normal cytogenetics: Are we ready for a prognostically prioritized molecular classification?
    • Mrozek K, Marcucci G, Paschka P, et al. Clinical relevance of mutations and gene expression changes in adult acute myeloid leukemia with normal cytogenetics: are we ready for a prognostically prioritized molecular classification? Blood. 2007;109:431-448.
    • (2007) Blood , vol.109 , pp. 431-448
    • Mrozek, K.1    Marcucci, G.2    Paschka, P.3
  • 45
    • 70349833393 scopus 로고    scopus 로고
    • Cytogenetics and molecular genetics of acute lymphoblastic leukemia
    • Mrozek K, Harper D, Aplan P. Cytogenetics and molecular genetics of acute lymphoblastic leukemia. Hematol Oncol Clin North Am. 2009;23:991-1010.
    • (2009) Hematol Oncol Clin North Am , vol.23 , pp. 991-1010
    • Mrozek, K.1    Harper, D.2    Aplan, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.