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Research Findings May Improve Detection of TERT Mutations in Papillary Thyroid Carcinoma

By: Celeste L. Dixon
Posted: Thursday, May 13, 2021

Research findings from Janete Maria Cerutti, PhD, of Universidade Federal de São Paulo, and colleagues have shown that the prevalence of recurrent, somatic telomerase reverse transcriptase (TERT) promoter mutations in papillary thyroid carcinoma may be higher than previously reported. These mutations, C228T and C250T, are known to play a significant role in this cancer’s recurrence and disease-specific mortality.

“More studies are necessary to evaluate the percentage of mutated TERT promoter alleles and its correlation with patients’ disease status,” the researchers concluded.

Most prior studies have used the Sanger sequencing method to detect TERT promoter mutations, but “this requires a mutant allele frequency of at least 20% to generate a positive signal,” the team wrote in Frontiers in Endocrinology. The droplet digital polymerase chain reaction (PCR) assay technology, however, was able to detect TERT promoter mutations in six samples that harbored very low mutant allele frequency (≤ 2%) and were negative by both Sanger sequencing and a third method the team used for comparison, single-nucleotide polymorphisms genotyping assays. To compare the three technologies, the scientists used DNA isolated from tissue sampled from 89 papillary thyroid carcinomas and 40 paired lymph node metastases.

Because droplet digital PCR is highly sensitive and provides absolute quantification by direct counting positive wells, “it may be a better choice to detect the presence of low-abundance recurrent mutations…[in] the diagnosis or prognosis of cancer,” explained Dr. Cerutti and co-investigators. They suggest increased incorporation of droplet digital PCR into clinical practice, especially in the context of aggressive and advanced thyroid carcinomas.

Disclosure: The study authors reported no conflicts of interest.

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