5hmC Immunohistochemistry: A Predictor of TERT Promoter Mutational Status in Follicular Thyroid Carcinoma?

J Histochem Cytochem. 2023 Aug;71(8):451-458. doi: 10.1369/00221554231190437. Epub 2023 Jul 24.

Abstract

Telomerase reverse transcriptase (TERT) gene aberrancies correlate to adverse prognosis in follicular thyroid carcinoma (FTC). As loss of 5-hydroxymethylcytosine (5hmC) has been associated with TERT promoter mutations in papillary thyroid carcinoma, this study sought to analyze the levels of 5hmC in a cohort of follicular thyroid tumors with available TERT data. A total of 29 tumors (26 FTCs, 2 follicular thyroid tumors of uncertain malignant potential, and 1 oncocytic thyroid carcinoma) with known TERT promoter mutational status and TERT gene expression were assessed for 5hmC immunoreactivity using two antibodies (clones RM236 and 4D9.) Slides were analyzed using a semiquantitative scoring system. Of the 10 tumor cases with aberrant TERT, only 1 scored negative with both antibodies (1/10; 10%), whereas the remaining 9 cases (9/10; 90%) exhibited some positivity for at least one antibody. Of the 19 TERT wild-type tumors, no case was scored negative using RM236, and 2 cases (2/19; 11%) using 4D9. The differences between TERT promoter mutated and wild-type groups were non-significant. The sensitivity and specificity for 5hmC immunohistochemistry (IHC) to detect mutated cases were 10% and 100% (RM236) and 20% and 89% (4D9). Therefore, 5hmC IHC is not a sensitive marker for detecting TERT promoter mutations in follicular thyroid tumors.

Keywords: 5-hydroxymethylcytosine; TERT promoter mutation; follicular adenocarcinoma; immunohistochemistry; monoclonal antibodies; thyroid neoplasms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Follicular* / diagnosis
  • Adenocarcinoma, Follicular* / genetics
  • Adenocarcinoma, Follicular* / pathology
  • Humans
  • Immunohistochemistry
  • Mutation
  • Telomerase* / genetics
  • Thyroid Cancer, Papillary
  • Thyroid Neoplasms* / diagnosis
  • Thyroid Neoplasms* / genetics
  • Thyroid Neoplasms* / pathology

Substances

  • TERT protein, human
  • Telomerase