Digital Gene Expression Analysis Might Aid in the Diagnosis of Thyroid Cancer

Abstract

Background Thyroid cancer represents approximately 90% of endocrine cancers. Difficulties in diagnosis and low inter-observer agreement are sometimes encountered, especially in the distinction between the follicular variant of papillary thyroid carcinoma (fvptc) and other follicular-patterned lesions, and can present significant challenges. In the present proof-of-concept study, we report a gene-expression assay using NanoString nCounter technology (NanoString Technologies, Seattle, WA, U.S.A.) that might aid in the differential diagnosis of thyroid neoplasms based on gene-expression signatures.
 Methods Our cohort included 29 patients with classical papillary thyroid carcinoma (ptc), 13 patients with fvptc, 14 patients with follicular thyroid carcinoma (ftc), 14 patients with follicular adenoma (fa), and 14 patients without any abnormality. We developed a 3-step classifier that shows good correlation with the pathologic diagnosis of various thyroid neoplasms. Step 1 differentiates normal from abnormal thyroid tissue; step 2 differentiates benign from malignant lesions; and step 3 differentiates the common malignant entities ptc, ftc, and fvptc.
 Results Using our 3-step classifier approach based on selected genes, we developed an algorithm that attempts to differentiate thyroid lesions with varying levels of sensitivity and specificity. Three genes—namely SDC4, PLCD3, and NECTIN4/PVRL4—were the most informative in distinguishing normal from abnormal tissue with a sensitivity and a specificity of 100%. One gene, SDC4, was important for differentiating benign from malignant lesions with a sensitivity of 89% and a specificity of 92%. Various combinations of genes were required to classify specific thyroid neoplasms.
 Conclusions This preliminary proof-of-concept study suggests a role for nCounter technology, a digital gene expression analysis technique, as an adjunct assay for the molecular diagnosis of thyroid neoplasms.

The tumor microenvironment may trigger lymphoproliferation in cardiac myxoma

“…Custom nCounter probes for the gene set were designed by NanoString Technologies and manufactured by Integrated DNA Technologies [Coralville, IA, U.S.A.]. Details of the nCounter technology have been reported previously in a report on thyroid cancer by our University [41] . Briefly, a custom nCounter code set consisting of multiplexed probes targeting the gene set was used for gene expression analysis.…”

A Literature Review of The Epidemiology, Pathogenesis and Treatment of Thyroid Cancer

“…It includes "follicular adenoma (fa)", "follicular follicular variant of papillary thyroid carcinoma" (fvptc), "papillary thyroid carcinoma" (ptc), and "follicular thyroid carcinoma" (ftc). "Papillary thyroid carcinoma" is the most common among all lesions (Armanious et al, 2020).…”

“…Sometimes, diagnostic problems are encountered in which the difference between follicular variant of "papillary thyroid carcinoma" and other follicular-patterned lesions present challenges (Armanious et al, 2020).…”

“…Previous approaches, on the larger scale, have been restricted to the use of various immunohistochemical stains, individually or in the combine form. Upon investigation, several antibodies have been explored in which those included that are against "HBME-1", "CK19", "galectin-3", "galectin-1", "CITED-1", "CD44", "Trop-2", "CD56", and "TPO" with varied levels of success (Armanious et al, 2020).…”

Multi-Omics and Management of Follicular Carcinoma of the Thyroid

“…The diagnosis of PTC following FNAC is based on the existence of typical nuclear features and/or architectural changes [ 35 ]. Supplementary imaging investigations, immunohistochemistry, mutational analysis, and diagnostic thyroid lobectomy are added if FNAC is not diagnostic, which is likely in the case of FTC [ 36 , 37 , 38 , 39 ].…”