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RNA-Based Assays

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Molecular Diagnostics in Cytopathology

Abstract

In addition to DNA-based assays, molecular cytopathology includes RNA-based assays. In routine clinical settings, these assays are used for the detection of relevant biomarkers to refine indeterminate morphological diagnosis and to predict treatment response. In this chapter, we will focus on a wide range of RNA-based techniques, including conventional as well as emerging assays, such as quantitative reverse transcriptase-PCR (qRT-PCR), next-generation RNA sequencing, and multiplex digital color-coded barcode technology. We provide a brief overview of the main technical aspects of RNA workflow analysis with a focus on the potential and the challenges of cytological specimens.

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Abbreviations

ALK :

Anaplastic lymphoma kinase or ALK receptor tyrosine kinase

BRAF :

v-Raf murine sarcoma oncogene homolog B

DNA:

Deoxyribonucleic acid

EGFR :

Epidermal growth factor receptor

IVD:

In vitro diagnostic

LOD:

Limit of detection

MET :

MET proto-oncogene, receptor tyrosine kinase

NGS:

Next-generation sequencing

NRG1 :

Neuregulin 1

NTRK :

Neurotrophic tyrosine kinase, receptor

RET :

Proto-oncogene tyrosine-protein kinase receptor ret

ROS1 :

ROS proto-oncogene 1, receptor tyrosine kinase

RNA:

Ribonucleic acid

RT-PCR:

Reverse transcription-polymerase chain reaction

TAT:

Turnaround time

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Authors and Affiliations

  1. Department of Public Health, University of Naples “Federico II”, Naples, Italy

    Umberto Malapelle, Pasquale Pisapia, Miriam Cieri, Francesco Pepe & Giancarlo Troncone

Authors
  1. Umberto Malapelle
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  2. Pasquale Pisapia
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  3. Miriam Cieri
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  4. Francesco Pepe
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  5. Giancarlo Troncone
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Corresponding author

Correspondence to Giancarlo Troncone .

Editor information

Editors and Affiliations

  1. MD Anderson Cancer Center, The University of Texas, Houston, TX, USA

    Sinchita Roy-Chowdhuri

  2. Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA

    Paul A. VanderLaan

  3. MD Anderson Cancer Center, The University of Texas, Houston, TX, USA

    John M. Stewart

  4. Department of Laboratory Medicine, University of Toronto, Toronto, ON, Canada

    Gilda da Cunha Santos

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Malapelle, U., Pisapia, P., Cieri, M., Pepe, F., Troncone, G. (2019). RNA-Based Assays. In: Roy-Chowdhuri, S., VanderLaan, P., Stewart, J., Santos, G. (eds) Molecular Diagnostics in Cytopathology. Springer, Cham. https://doi.org/10.1007/978-3-319-97397-5_6

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  • DOI: https://doi.org/10.1007/978-3-319-97397-5_6

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-97396-8

  • Online ISBN: 978-3-319-97397-5

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