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Molecular Cytopathology: Final Thoughts and Future Directions

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Molecular Diagnostics in Cytopathology

Abstract

The rapid integration of molecular diagnostic assays into pathology has revolutionized the practice of diagnostic cytopathology by providing a genomic dimension to morphologic diagnoses while providing predictive, prognostic, and therapeutic information for patient care. The versatility of cytology specimen preparations provides a variety of options for performing molecular assays, as long as the pre-analytic aspects of specimen processing and handling are optimized and the tests are appropriately validated. With the increasing use of liquid biopsy assays, several investigators are exploring molecular testing using tumor-derived cell-free DNA (cfDNA) in cytology samples. In addition, cytopathologists are discovering ways to better utilize cytology specimens by repurposing previously discarded samples to provide additional genomic information in cases that would otherwise warrant an additional biopsy. These novel applications of molecular assays in cytology have expanded the role of cytopathology in routine patient care. Cytopathologists will need to continue to evolve with the changing landscape of molecular medicine, to adopt and optimize new technology, and to integrate molecular methods into routine cytopathology practice.

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Abbreviations

BRAF :

v-Raf murine sarcoma viral oncogene homolog B

cfDNA:

Cell-free DNA

CSF:

Cerebrospinal fluid

ctDNA:

Circulating tumor DNA

DNA:

Deoxyribonucleic acid

ddPCR:

Droplet digital PCR

EBUS-TBNA:

Endobronchial ultrasound-guided transbronchial needle aspiration

EGFR :

Epidermal growth factor receptor

EUS:

Endoscopic ultrasound

FDA:

United States Food and Drug Administration

FNA:

Fine-needle aspiration

FISH:

Fluorescence in situ hybridization

HPV:

Human papillomavirus

KRAS :

Kirsten rat sarcoma viral oncogene homolog

LBC:

Liquid-based cytology

LOH:

Loss of heterozygosity

NGS:

Next-generation sequencing

NRAS :

Neuroblastoma RAS viral oncogene

PCR:

Polymerase chain reaction

PPAR-γ:

Peroxisome proliferator-activated receptor γ

PTC:

Papillary thyroid carcinoma

RET :

Proto-oncogene tyrosine-protein kinase receptor Ret

RNA:

Ribonucleic acid

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Authors and Affiliations

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

    Sinchita Roy-Chowdhuri

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  1. Sinchita Roy-Chowdhuri
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Correspondence to Sinchita Roy-Chowdhuri .

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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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Roy-Chowdhuri, S. (2019). Molecular Cytopathology: Final Thoughts and Future Directions. 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_20

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  • DOI: https://doi.org/10.1007/978-3-319-97397-5_20

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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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