BRAF 和 TERT 启动子 C228T 突变在甲状腺细针穿刺洗脱液检测 v3 分析甲状腺乳头状癌延迟皮肤转移中的作用：病例报告及文献复习。

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

机构信息

Department of Surgery, Seoul National University Bundang Hospital and College of Medicine, 82, Gumi-Ro 173 Beon-Gil, Bundang-GuGyeonggi-Do, Seongnam-Si, 13620, Korea.

Department of Surgery, The Mount Sinai Hospital, Icahn School of Medicine at Mount Sinai, 1468 Madison Ave, New York, NY, 10029, USA.

出版信息

World J Surg Oncol. 2023 Feb 17;21(1):49. doi: 10.1186/s12957-023-02937-7.

DOI:10.1186/s12957-023-02937-7

PMID:36804879

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9936773/

Abstract

BACKGROUND

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.

CASE PRESENTATION

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.

CONCLUSIONS

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.

摘要

背景

甲状腺乳头状癌（PTC）皮肤转移是一种罕见的疾病，可在原发肿瘤治疗后长达数十年发生。在此，我们报告了一例在原发肿瘤治疗 10 年后发生皮肤转移的患者，并描述了转移灶的分子发现。

病例介绍

一名 44 岁女性，患有 PTC 病史，10 年前接受了甲状腺全切除术和放射性碘（RAI）治疗，目前于原甲状腺切除术瘢痕处出现了一个 1.3 厘米的皮肤病变。活检显示转移性 PTC，患者随后接受了病变的手术切除。ThyroSeq 分子检测显示 BRAF 突变和 TERT 启动子 C228T 突变同时存在。患者随后接受了一轮辅助 RAI 治疗。