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Molecular Methods in Oncology: Targeted Mutational Analysis

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Precision Molecular Pathology of Neoplastic Pediatric Diseases

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Abstract

Polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) are both molecular techniques that simultaneously exploit and are limited by sequence specificity. Both techniques have high sensitivity and specificity, accomplished through the use of primers and probes custom-designed for a given application. PCR is capable of exponentially amplifying target sequences, either as a direct method of detection or as a preliminary step to create ample material for subsequent assays. FISH allows the identification and localization of specific genetic sequences on chromosomes or other targets. Both techniques work well on formalin-fixed paraffin-embedded tissue, making them ideal for pediatric tumor studies. PCR and FISH are easy to perform and readily set up in most clinical and research laboratories. These assays have found widespread use in pediatric cancer diagnostics including mutational analysis, detecting fusion genes, and measuring gene expression.

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Authors and Affiliations

  1. Division of Pediatric Pathology, Medical College of Wisconsin, Milwaukee, WI, USA

    Jason A. Jarzembowski MD, PhD

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  1. Jason A. Jarzembowski MD, PhD
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Correspondence to Jason A. Jarzembowski MD, PhD .

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Editors and Affiliations

  1. Department of Pathology, University of Utah/ARUP Laboratories, Salt Lake City, Utah, USA

    Larissa V. Furtado

  2. Department of Pathology, University of Chicago, Chicago, Illinois, USA

    Aliya N. Husain

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Jarzembowski, J.A. (2018). Molecular Methods in Oncology: Targeted Mutational Analysis. In: Furtado, L., Husain, A. (eds) Precision Molecular Pathology of Neoplastic Pediatric Diseases . Molecular Pathology Library. Springer, Cham. https://doi.org/10.1007/978-3-319-89626-7_2

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  • DOI: https://doi.org/10.1007/978-3-319-89626-7_2

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