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

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Abstract

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: T1 (n = 3), T2 (n = 1), and T3 (n = 11). Cancerous invasion of the pericystic soft tissue and/or hyoid bone was considered T3. BRAFV600E was the only mutational marker identified (7 in 15 cases). All BRAFV600E-positive lesions were T3, necessitating radioactive iodine ablation (RIA) therapy, therefore, total thyroidectomy. The correlation between BRAFV600E positivity and extracystic cancerous extension was statistically significant [1.0 (7/7) vs. 0.5 (4/8); p value = 0.0035]. BRAFV600E 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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Funding

This study was not funded by any grant.

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Authors and Affiliations

  1. Department of Surgery, Faculty of Medicine, The Hashemite University, Zarqa, 13133, Jordan

    Sohail Bakkar

  2. Department of Surgical Pathology, the University of Pisa, 56124, Pisa, Italy

    Sohail Bakkar, Elisabetta Macerola, Agnese Proietti, Gabriele Materazzi, Fulvio Basolo & Paolo Miccoli

  3. Department of Surgery, Faculty of Medicine, Jordan University of Science and Technology, Irbid, 22110, Jordan

    Qusai Aljarrah

Authors
  1. Sohail Bakkar
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  2. Elisabetta Macerola
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  3. Qusai Aljarrah
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  4. Agnese Proietti
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  5. Gabriele Materazzi
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  6. Fulvio Basolo
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  7. Paolo Miccoli
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Correspondence to Sohail Bakkar.

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All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Bakkar, S., Macerola, E., Aljarrah, Q. et al. BRAFV600E mutation: a potential predictor of more than a Sistrunk’s procedure in patients with thyroglossal duct cyst carcinoma and a normal thyroid gland. Updates Surg 71, 701–704 (2019). https://doi.org/10.1007/s13304-019-00684-7

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  • DOI: https://doi.org/10.1007/s13304-019-00684-7

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