BRAF V600E and TERT promoter C228T mutations on ThyroSeq v3 analysis of delayed skin metastasis from papillary thyroid cancer: a case report and literature review

Skin metastasis from papillary thyroid cancer (PTC) is a rare entity that can occur up to decades after treatment of the primary tumor. Here, we present a patient who developed skin metastasis 10 years after treatment of her primary tumor and describe the molecular findings of the metastatic lesion....

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Published inWorld journal of surgical oncology Vol. 21; no. 1; p. 49
Main Authors Choi, Jee-Hye, Yu, Hyeong Won, Lee, Ja Kyung, Kim, Woochul, Choi, June Young, Na, Hee Young, Park, So Yeon, Ahn, Chang Ho, Moon, Jae Hoon, Choi, Sang Il, Lee, Ho-Young, Lee, Won Woo, Cha, Wonjae, Jeong, Woo-Jin
Format Journal Article
LanguageEnglish
Published England 17.02.2023
Subjects
Adult
Female
Humans
Iodine Radioisotopes
Mutation
Neoplasm Recurrence, Local - genetics
Promoter Regions, Genetic - genetics
Proto-Oncogene Proteins B-raf - genetics
Skin Neoplasms - genetics
Telomerase - genetics
Thyroid Cancer, Papillary - genetics
Thyroid Neoplasms - genetics
Thyroid Neoplasms - pathology
Thyroid Neoplasms - surgery
Skin metastasis
ThyroSeq
Papillary thyroid cancer
Metastatic papillary thyroid cancer
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Summary:Skin metastasis from papillary thyroid cancer (PTC) is a rare entity that can occur up to decades after treatment of the primary tumor. Here, we present a patient who developed skin metastasis 10 years after treatment of her primary tumor and describe the molecular findings of the metastatic lesion. A 44-year-old female with a history of PTC who underwent a total thyroidectomy and radioactive iodine (RAI) treatment 10 years ago presented with a 1.3-cm skin lesion along the prior thyroidectomy scar. A biopsy revealed metastatic PTC, and the patient underwent surgical excision of the lesion. ThyroSeq molecular testing showed the copresence of BRAF mutation and TERT promoter C228T mutation. The patient subsequently received one round of adjuvant RAI therapy. A high index of suspicion is warranted in patients with a history of PTC who develop a skin lesion, even several years after remission of the primary disease. In patients with high-risk mutations, such as BRAF and TERT promoter C228T mutations, long-term surveillance of disease recurrence is particularly important.
ISSN:1477-7819