BRAFV600E mutation: a potential predictor of more than a Sistrunk’s procedure in patients with thyroglossal duct cyst carcinoma and a normal thyroid gland

👉To assess the utility of mutational markers in determining the most appropriate initial surgery for patients with thyroglossal duct cyst carcinoma (TGDCCa) and a normal thyroid gland.

👉Our sample comprised 15 patients with a diagnosis of TGDCCa and a thyroid gland histologically negative for any malignant involvement, who underwent surgery between the years 1994 and 2017.

👉Clinical records were reviewed and tissue specimens were genetically tested for the presence of the most commonly encountered mutational markers in differentiated thyroid cancer: BRAF, N-RAS, and H-RAS.

👉The primary outcome of interest was the correlation between mutational marker positivity and the T-stage of the primary tumor and its potential implication on therapeutic decision making.

👉All 15 cases were papillary carcinomas with a mean tumor size of 17 mm (2–40 mm). According to the 7th edition of the American Joint Committee on Cancer TNM staging system, these represented: T (n= 3), T (n= 1), and T (n= 11). Cancerous invasion of the pericystic soft tissue and/or hyoid bone was considered T3. BRAF was the only mutational marker identified (7 in 15 cases). All BRAF-positive lesions were T, necessitating radioactive iodine ablation (RIA) therapy, therefore, total thyroidectomy. The correlation between BRAF positivity and extracystic cancerous extension was statistically significant [1.0 (7/7) vs. 0.5 (4/8); p value = 0.0035]. BRAF positivity seems to be predictive of locally advanced disease mandating RIA therapy.

👉Therefore, it could serve as a preoperative tool that predicts the need for total thyroidectomy, in addition to Sistrunk’s procedure.

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