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Molecular Testing in Bone and Soft Tissue Tumors

  • Chapter
Molecular Testing in Cancer

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Abstract

Classified by their histologic line of differentiation, bone and soft tissue tumours encompass a heterogenous population of neoplasms, with a spectrum of biologic potential. The molecular pathophysiology of most of these tumours can be basically divided into those with specific recurrent translocations or oncogenic mutations and nonspecific genetic findings and complex unbalanced karyotypes. Building on early gains derived from conventional cytogenetics, the molecular drivers and downstream pathways involved in these tumours are currently being characterized at an unprecedented rate. These advances can be rapidly translated into specific and sensitive diagnostic molecular markers—predominantly using fluorescence in situ hybridization and the reverse transcriptase polymerase chain reaction. The imminent introduction of techniques such as next generation sequencing and expression profiling into the pathology laboratory promises to usher a brave new world in molecular diagnostics that will also function as a discovery platform and define a more personalized approach to management.

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  1. Department of Pathology and Laboratory Medicine and Pathobiology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada, M5G 1X5

    Brendan C. Dickson M.D. & Rita A. Kandel M.D.

  2. Department of Paediatric Laboratory Medicine and Pathobiology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, M5G 1X8

    Gino R. Somers M.D., Ph.D.

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  1. Brendan C. Dickson M.D.
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  1. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

    George M. Yousef

  2. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

    Serge Jothy

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Dickson, B.C., Somers, G.R., Kandel, R.A. (2014). Molecular Testing in Bone and Soft Tissue Tumors. In: Yousef, G., Jothy, S. (eds) Molecular Testing in Cancer. Springer, New York, NY. https://doi.org/10.1007/978-1-4899-8050-2_21

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