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Cancer Genomics pp 429–452Cite as

Sarcomas Genetics: From Point Mutation to Complex Karyotype, from Diagnosis to Therapies

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Abstract

Sarcomas represent a heterogeneous group of rare tumours accounting for approximately 1% of adult cancers and with more than 50 histological subtypes. Almost half of all sarcomas bear a specific (or almost specific) relatively simple genetic lesion, i.e., recurrent chromosomal translocations, specific activating or rarely specific inactivating mutations and amplifications; the other half is composed of different histotypes characterized by a complex genetics. Even in sarcomas characterized by a single recurrent and specific genomic alteration, clinical outcome is associated to chromosomal instability. These different genetic markers, together with expression profiling are now daily helpful tools for diagnosis and prognosis but are still poorly useful regarding targeted therapies, with a few exceptions. Consequently, the next breakthrough toward a personalized medicine for sarcoma will be the identification of signature predicting drug response, the best being targetable oncogenic driver alteration.

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Authors and Affiliations

  1. INSERM U916: Genetics and Biology of Sarcomas, Bordeaux, France

    Frédéric Chibon, Alain Aurias & Jean-Michel Coindre

  2. Department of Pathology, Bergonie Cancer Institute, Bordeaux, France

    Frédéric Chibon & Jean-Michel Coindre

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  1. Frédéric Chibon
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  2. Alain Aurias
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  3. Jean-Michel Coindre
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Correspondence to Frédéric Chibon .

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  1. , Integrated Molecular Pathology, National Cancer Research Institute, Largo Rosanna Benzi 10, Genova, 16132, Italy

    Ulrich Pfeffer

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Chibon, F., Aurias, A., Coindre, JM. (2013). Sarcomas Genetics: From Point Mutation to Complex Karyotype, from Diagnosis to Therapies. In: Pfeffer, U. (eds) Cancer Genomics. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-5842-1_13

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