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Molecular Diagnostics in Thyroid Cytology

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Molecular Diagnostics in Cytopathology

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Abstract

Molecular testing in thyroid fine-needle aspiration (FNA) specimens is currently aimed at refining cancer risk among nodules with indeterminate cytology. Laboratories have taken different strategies for risk stratification, including analysis of gene expression profiles, microRNA expression patterns, genotyping for driver alterations, and a combination of these approaches. This chapter will review the application of these various approaches to thyroid FNA samples, as exemplified by four commercially available tests: Afirma, RosettaGX Reveal, ThyGenX/ThyraMIR, and ThyroSeq.

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Abbreviations

ATA:

American Thyroid Association

AUS/FLUS:

Atypia of undetermined significance/follicular lesion of undetermined significance

BRAF :

v-raf murine sarcoma viral oncogene homolog B

CALCA :

Calcitonin-related polypeptide alpha

CEACAM5 :

Carcinoembryonic antigen-related cell adhesion molecule 5

cPTC:

Classical papillary thyroid carcinoma

DNA:

Deoxyribonucleic acid

FN/SFN:

Follicular neoplasm/suspicious for follicular neoplasm

FNA:

Fine-needle aspiration

FTC:

Follicular thyroid carcinoma

FV-PTC:

Follicular variant of papillary thyroid carcinoma

GC:

Genomic Classifier (for ThyroSeq v3)

GEC:

Gene Expression Classifier (for Afirma)

GSC:

Gene Sequencing Classifier (for Afirma)

HRAS :

HRas proto-oncogene, GTPase

KRAS :

Kirsten rat sarcoma viral oncogene homolog

KRT7 :

Cytokeratin 7

MAPK :

Mitogen-activated protein kinase

mRNA:

Messenger ribonucleic acid

MTC:

Medullary thyroid carcinoma

NIFTP:

Noninvasive follicular thyroid neoplasm with papillary-like nuclear features

NPV:

Negative predictive value

NRAS :

Neuroblastoma RAS viral oncogene

PI3K:

Phosphoinositide 3-kinase

PIK3CA :

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

PPV:

Positive predictive value

PTC:

Papillary thyroid carcinoma

PTH:

Parathyroid hormone

RET-PTC1/3 :

Gene fusion between tyrosine kinase domain of RET (ret proto-oncogene) and CCD6 gene (PTC1) or ELE1/RFG/NCOA4 gene (PTC3)

RNA:

Ribonucleic acid

ROC:

Receiver operating curve

SCG3 :

Secretogranin III

SCN9A :

Sodium voltage-gated channel alpha subunit 9

SLC5A5 :

Solute carrier family 5 member 5 (also known as NIS [sodium/iodide symporter])

SYT4 :

Synaptotagmin 4

TBSRTC:

The Bethesda System for Reporting Thyroid Cytopathology

TCGA:

The Cancer Genome Atlas

TERT :

Telomerase reverse transcriptase

TG :

Thyroglobulin

TP53 :

Tumor protein p53

TTF-1:

Thyroid transcription factor 1 (gene name: NKX2–1)

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Authors and Affiliations

  1. Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA

    Michiya Nishino

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  1. Michiya Nishino
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  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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Nishino, M. (2019). Molecular Diagnostics in Thyroid Cytology. 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_12

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