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:10.3389/fendo.2019.00513

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

A.O.U. San Martino - IST, Istituto Nazionale Ricerca sul Cancro (GENOVA)

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	513
Journal	Frontiers in Endocrinology
Volume	10
DOIs	https://doi.org/10.3389/fendo.2019.00513
Publication status	Published - 2019

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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 journal › Article › peer-review

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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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.",

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AU - Dono, Mariella

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AU - Spina, Bruno

AU - Pitto, Francesca

AU - Petrogalli, Floriana

AU - Conte, Lucia

AU - Ambrosetti, Eleonora

AU - Minuto, Michele N

AU - Ansaldo, Gian Luca

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AU - Zupo, Simona

AU - Giusti, Massimo

PY - 2019

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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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