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The Impact of Cytogenetics and Molecular Genetics on Diagnosis and Treatment

  • Conference paper

Part of the book series: European School of Oncology ((ESO MONOGRAPHS))

Abstract

Chromosomal abnormalities have long been associated with malignant transformation. For many years such aneuploidy was considered to be random and therefore an epi-phenomenon of malignancy. However, the discovery by Nowell and Hungerford that a specific cytogenetic aneuploidy was associated with a specific disease, the Philadelphia chromosome and its association with the clinical diagnosis of chronic granulocytic leukaemia, initiated a new era of the study of chromosomes in leukaemia [1]. This cytogenetic aneuploidy was called Philadelphia One, because it was expected that other non-random chromosome abnormalities would be rapidly discovered. There is no Philadelphia Two to date. In acute leukaemia, somewhere between 40 and 80% of patients were found to have aneuploidy, but, again, multiple abnormalities were discovered [2] and it was not until 1973 that an association with clinical characteristics for a specific non-random chromosome aneuploidy, the 8;21 translocation, was described [3]. It now seems clear that non-random chromosome abnormalities are associated with specific diagnoses, that is, distinctive natural histories of the disease and perhaps more important have proven to be an independent and important prognostic factor in predicting response to therapy [4,5].

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© 1990 Springer-Verlag Berlin Heidelberg

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Freireich, E.J. (1990). The Impact of Cytogenetics and Molecular Genetics on Diagnosis and Treatment. In: Freireich, E.J. (eds) New Approaches to the Treatment of Leukemia. European School of Oncology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-75484-5_6

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  • DOI: https://doi.org/10.1007/978-3-642-75484-5_6

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-75486-9

  • Online ISBN: 978-3-642-75484-5

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