Frontiers in Endocrinology (Jul 2019)

An H-TERT Mutated Skin Metastasis as First Occurrence in a Case of Follicular Thyroid Carcinoma

  • Eleonora Monti,
  • Mariella Dono,
  • Edoardo Gonella,
  • Bruno Spina,
  • Francesca Pitto,
  • Floriana Petrogalli,
  • Lucia Conte,
  • Eleonora Ambrosetti,
  • Michele N. Minuto,
  • Gian Luca Ansaldo,
  • Silvia Morbelli,
  • Simona Zupo,
  • Massimo Giusti

DOI
https://doi.org/10.3389/fendo.2019.00513
Journal volume & issue
Vol. 10

Abstract

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Differentiated thyroid cancer arising from thyroid follicular epithelial cells is the most frequent endocrine malignancy, and skin metastases are very rare. We describe a case of a 70-year-old women with a history of an indeterminate thyroid nodule on cytology. A painless, erythematous skin nodule of about 7 mm diameter was removed from the scalp and diagnosed as a metastasis from thyroid cancer. After total thyroidectomy, a histological diagnosis of follicular thyroid cancer was made. Two cycles of radioactive iodine were performed. Both the follicular thyroid carcinoma (FTC) and the metastasis were investigated for the presence of BRAF/RAS and TERT promoter mutations. The results showed that the cutaneous metastasis was BRAF wild-type and TERT promoter-mutated (position g.1,295,228 C>T); in contrast, the primary thyroid lesion was negative for both molecular markers.

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