Prevalence and clinico-pathological correlations of BRAF V600E and TERT promoter mutations in differentiated thyroid cancer in Romania

Ruxandra Dobrescu; Sorina Schipor; Andrei Muresan; Dumitru Ioachim; Andrei Goldstein; Dana Manda; Suzana Vladoiu; Corin Badiu

doi:10.1530/endoabs.90.P507

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Endocrine Abstracts (2023) 90 P507 | DOI: 10.1530/endoabs.90.P507

ECE2023 Poster Presentations Thyroid (163 abstracts)

Prevalence and clinico-pathological correlations of BRAF V600E and TERT promoter mutations in differentiated thyroid cancer in Romania

Ruxandra Dobrescu ¹ , Sorina Schipor ¹ , Andrei Muresan ¹ , Dumitru Ioachim ² , Andrei Goldstein ³ , Dana Manda ¹ , Suzana Vladoiu ¹ & Corin Badiu ⁴

Err

Author affiliations

¹CI Parhon National Institute of Endocrinology, Scientific Laboratory, Bucharest, Romania; ²CI Parhon National Institute of Endocrinology, Pathology, Bucharest, Romania; ³CI Parhon National Institute of Endocrinology, Nuclear Medicine, Bucharest, Romania; ⁴CI Parhon National Institute of Endocrinology, Thyroid related disorders, Bucharest, Romania

Background: Differentiated thyroid cancer (DTC) encompases a wide spectrum of disease from clinically insignificant micro-tumors to aggressive cancers. The molecular signature can be used to predict tumor behaviour, and the co-existence of BRAF and TERT promoter mutations has been identified as a marker of adverse prognosis, but we have yet no available molecular data for the Romanian population.

Objectives: To determine the prevalence of BRAF V600E and TERT promoter mutations in the Romanian thyroid cancer patients and to evaluate the association between mutational status and the clinical and pathological characteristics used in risk stratification.

Methods: We evaluated 68 tissue samples from 58 patients with DTC followed up in ‘CI Parhon’ Institute. Paraffin embedded tissue was used to extract genomic DNA, and BRAF V600E and C228T and C250T TERT promoter mutations were detected using Sanger sequencing.

Results: BRAF V600E mutation was present in 21.2% (11/52) patients, significantly correlated with classical papillary carcinoma and aggressive histology subtypes (χ2=11.29, P=0.023), but not with age, invasion, TNM stage or ATA risk group. TERT promoter mutations were identified in 17.3% (9/52) of patients, and were associated with advanced age (age ≥45years) (χ2=3.352, P=0.06), aggressive histological subtypes (χ2=9.04, P=0.060) and advanced local tumor stages (χ2=4.121, P=0.042). The patients with concomitant BRAF+TERT promoter mutations (n=5) presented with clinically aggressive cancer (high risk ATA) (χ2=6.019, P=0.049), while 4/5 were radioiodine resistant.

Conclusions: We identified a low prevalence of BRAF V600E mutations, probably related to geographical (iodine deficiency) and ethnic factors, and a high prevalence of TERT promoter mutations probably due to the large proportion of aggressive cancers included. BRAF and TERT promoter mutation status helps identify patients with clinically aggressive cancer who will require intensive management.