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Molecular Testing in Paediatric Tumours

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Molecular Testing in Cancer

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Abstract

Paediatric molecular diagnostics provides essential diagnostic and prognostic information that helps guide management for patients with a variety of tumours. Two specific tumour types will be discussed in this chapter: paediatric sarcomas and neuroblastoma. Paediatric sarcomas harbour specific and diagnostic molecular rearrangements, and the discussion will focus on Ewing sarcoma as the archetypal tumour family with a number of subtype-specific molecular rearrangements. Neuroblastoma has several molecular abnormalities that provide prognostic information critical to planning therapy. The two most common are NMYC amplification and 1p deletion; others are being investigated and will be discussed. The tools used to detect such abnormalities will be presented, and a number of newer cutting-edge technologies are included as they make their way from the research bench to the diagnostic laboratory. With the tools of molecular pathology, the pathologist is playing a central role in delivering personalized medicine to paediatric patients.

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Authors and Affiliations

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

    Gino R. Somers M.D., Ph.D. & Paul S. Thorner M.D., Ph.D.

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

    Gino R. Somers M.D., Ph.D. & Paul S. Thorner M.D., Ph.D.

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  1. Gino R. Somers M.D., Ph.D.
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  2. Paul S. Thorner M.D., Ph.D.
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Correspondence to Gino R. Somers M.D., Ph.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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Somers, G.R., Thorner, P.S. (2014). Molecular Testing in Paediatric Tumours. In: Yousef, G., Jothy, S. (eds) Molecular Testing in Cancer. Springer, New York, NY. https://doi.org/10.1007/978-1-4899-8050-2_23

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