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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)513
JournalFrontiers in Endocrinology
Volume10
DOIs
Publication statusPublished - 2019

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Follicular Adenocarcinoma
Thyroid Neoplasms
Neoplasm Metastasis
Skin
Thyroid Nodule
Thyroidectomy
Scalp
Iodine
Cell Biology
Thyroid Gland
Mutation
Neoplasms
Thyroid Epithelial Cells

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An H-TERT Mutated Skin Metastasis as First Occurrence in a Case of Follicular Thyroid Carcinoma. / Monti, Eleonora; Dono, Mariella; Gonella, Edoardo; Spina, Bruno; Pitto, Francesca; Petrogalli, Floriana; Conte, Lucia; Ambrosetti, Eleonora; Minuto, Michele N; Ansaldo, Gian Luca; Morbelli, Silvia; Zupo, Simona; Giusti, Massimo.

In: Frontiers in Endocrinology, Vol. 10, 2019, p. 513.

Research output: Contribution to journalArticle

Monti, E, Dono, M, Gonella, E, Spina, B, Pitto, F, Petrogalli, F, Conte, L, Ambrosetti, E, Minuto, MN, Ansaldo, GL, Morbelli, S, Zupo, S & Giusti, M 2019, 'An H-TERT Mutated Skin Metastasis as First Occurrence in a Case of Follicular Thyroid Carcinoma', Frontiers in Endocrinology, vol. 10, pp. 513. https://doi.org/10.3389/fendo.2019.00513
Monti, Eleonora ; Dono, Mariella ; Gonella, Edoardo ; Spina, Bruno ; Pitto, Francesca ; Petrogalli, Floriana ; Conte, Lucia ; Ambrosetti, Eleonora ; Minuto, Michele N ; Ansaldo, Gian Luca ; Morbelli, Silvia ; Zupo, Simona ; Giusti, Massimo. / An H-TERT Mutated Skin Metastasis as First Occurrence in a Case of Follicular Thyroid Carcinoma. In: Frontiers in Endocrinology. 2019 ; Vol. 10. pp. 513.
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AB - 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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