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WHO Classification of Tumours
Overview: AML with balanced translocations/inversions


This group is characterized by recurrent genetic abnormalities of prognostic significance. The most commonly identified are balanced abnormalities: t(8;21)(q22;q22), inv(16)(p13.1q22) or t(16;16)(p13.1;q22), t(15;17)(q22;q12) and t(9;11)(p22;q23)
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Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461).
Blood 100: 4325-36




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Forestier E, Heim S, Blennow E, Borgström G, Holmgren G, Heinonen K, Johannsson J, Kerndrup G, Andersen MK, Lundin C, Nordgren A, Rosenquist R, Swolin B, Johansson B, , , (2003)
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Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison G, Rees J, Hann I, Stevens R, Burnett A, Goldstone A (1998)
The importance of diagnostic cytogenetics on outcome in AML: analysis of 1,612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties.
Blood 92: 2322-33




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Slovak ML, Kopecky KJ, Cassileth PA, Harrington DH, Theil KS, Mohamed A, Paietta E, Willman CL, Head DR, Rowe JM, Forman SJ, Appelbaum FR (2000)
Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group Study.
Blood 96: 4075-83



. Each of these structural chromosome rearrangements creates a fusion gene encoding a chimaeric protein that is required, but usually not sufficient, for leukaemogenesis
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Speck NA, Gilliland DG (2002)
Core-binding factors in haematopoiesis and leukaemia.
Nat Rev Cancer 2: 502-13



. Many of these disease groups have characteristic morphological and immuno­phenotypic features
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Arber DA, Carter NH, Ikle D, Slovak ML (2003)
Value of combined morphologic, cytochemical, and immunophenotypic features in predicting recurrent cytogenetic abnormalities in acute myeloid leukemia.
Hum Pathol 34: 479-83



. The categories of acute myeloid leukaemia (AML) with t(8;21)(q22;q22), inv(16)(p13.1q22) or t(16;16)(p13.1;q22) or t(15;17)(q22;q12) are considered as acute leukaemias without regard to blast cell count. It is not yet clear if all cases with t(9;11)(p22;q23), t(6;9)(p23;q34), inv(3)(q21q26.2), t(3;3) (q21;q26.2) or t(1;22)(p13;q13) should be categorized as AML when the blast cell count is <20%. Many of the translocations are detected by RT-PCR which has a higher sensitivity (1x10-5) than cytogenetic analysis (1x10-2). Cases of therapy-related AML/myelodysplastic syndrome (MDS) may also have the balanced translocations and inversions that are described in this section, but these should be diagnosed as therapy-related myeloid AML/MDS with the ­associated ­genetic abnormality noted.







Daniel A. Arber
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Daniel A. Arber
Stanford University Medical Center
Stanford
USA




Richard D. Brunning
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Richard D. Brunning
Department of Laboratory Medicine and Pathology
University of Minnesota
Minneapolis
USA




Michelle M. Le Beau
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Michelle M. Le Beau
Cancer Cytogenetics Laboratory
University of Chicago
Chicago
USA




Brunangelo Falini
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Brunangelo Falini
Institute of Haematology
University of Perugia Policlinico Monteluce
Perugia
Italy




James W. Vardiman
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James W. Vardiman
Department of Pathology
University of Chicago Medical Center
Chicago
USA




Anna Porwit
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Anna Porwit
Department of Pathology
Karolinska University Hospital
Stockholm
Sweden




Jürgen Thiele
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Jürgen Thiele
Institute of Pathology
University of Cologne
Cologne
Germany




Clara D. Bloomfield
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Clara D. Bloomfield
The Ohio State University
519 James Cancer Hospital
Columbus
USA