3例腔镜甲状腺术后皮下植入结节的形态学及分子特征

doi:10.16150/j.1007-9610.2025.03.009

摘要/Abstract

摘要：

目的：探讨腔镜甲状腺术后皮下种植性甲状腺病变的病理及分子特征。方法：回顾性分析本院病理科2017—2024年诊断的3例术后种植病例，通过形态学观察、免疫组织化学染色及二代基因测序(NGS)检测（66个肿瘤基因+177融合位点），对比原发灶与种植灶特征。结果：3例种植灶均与原发灶形态相似，但呈现突变富集：例1女，13岁。原发灶为甲状腺非典型滤泡性腺瘤，后进展为甲状腺滤泡癌，种植灶为甲状腺滤泡癌，原发灶和种植灶均出现MEN1基因突变，另外种植灶出现PTPRT基因突变。例2男，45岁。原发灶为双侧甲状腺结节性肿，种植灶为甲状腺滤泡上皮增生性病变，且于局灶出现直径0.3 cm的甲状腺乳头状癌，原发灶未检测到基因突变，种植灶发现MEN1、GLIS3、EZH1、KMT2C等4种基因突变。例3女，42岁。原发灶为左侧甲状腺腺瘤伴囊性变、右侧甲状腺结节性甲状腺肿，术后5年于右侧乳腺中发现种植灶，形态上表现为结节性甲状腺肿，分子检测出原发灶中存在TERT、GLIS3、SPOP等3种基因突变，种植灶中出现TERT、GLIS3、EIF1AX、KMT2C等4种基因突变。结论：腔镜甲状腺手术应用广泛，但在手术路径上可出现甲状腺病变的种植播散，病变类型包括良性及恶性病变，种植灶病理形态与原发灶相似，但呈现突变富集。

关键词: 腔镜甲状腺手术, 病理形态, 二代基因测序, 基因突变

Abstract:

Objective To investigate the pathological and molecular characteristics of subcutaneous implanted thyroid lesions after endoscopic thyroid surgery. Methods A retrospective analysis was conducted on three postoperative implantation cases diagnosed in the Department of Pathology of our hospital from 2017 to 2024. Morphological evaluation, immunohistochemical staining, and next generation sequencing (NGS) targeting 66 cancer-related genes and 177 fusion loci were performed to compare features between primary and implanted lesions. Results All three implanted lesions exhibited morphological similarity to their primary counterparts, but displayed enriched mutational profiles. Case 1: a 13-year-old female. The primary lesion was an atypical follicular adenoma progressing to follicular carcinoma, while the implanted lesion was follicular carcinoma. Both lesions harbored MEN1 mutations, with an additional PTPRT mutation detected in the implanted lesion. Case 2: a 45-year-old male. The primary lesion was bilateral nodular goiter, and the implanted lesion showed follicular epithelial hyperplasia with a 0.3 cm papillary carcinoma focus. No mutations were identified in the primary lesion, whereas the implanted lesion exhibited MEN1, GLIS3, EZH1, and KMT2C mutations. Case 3: a 42-year-old female. The primary lesion included a left thyroid adenoma with cystic degeneration and right nodular goiter. A nodular goiter-like implanted lesion was detected in the right breast 5 years postoperatively. The primary lesion harbored TERT, GLIS3, and SPOP mutations, while the implanted lesion showed TERT, GLIS3, EIF1AX, and KMT2C mutations. Conclusions Endoscopic thyroid surgery is widely applied in clinical practice, however, implantation dissemination of thyroid lesions along surgical pathways may occur, encompassing both benign and malignant entities. Implanted lesions exhibit pathological similarities to their primary counterparts, but demonstrate mutational enrichment.

Key words: Endoscopic thyroid surgery, Pathological morphology, Next generation sequencing (NGS), Gene mutation

中图分类号:

R653

贾景丹, 王良缘, 费晓春, 于腾, 王中玉, 谢静. 3例腔镜甲状腺术后皮下植入结节的形态学及分子特征[J]. 外科理论与实践, 2025, 30(03): 234-240.

JIA Jingdan, WANG Liangyuan, FEI Xiaochun, YU Teng, WANG Zhongyu, XIE Jing. Morphological and molecular characteristics of subcutaneous implantation of nodules after endoscopic thyroidectomy in 3 cases[J]. Journal of Surgery Concepts & Practice, 2025, 30(03): 234-240.

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Case	1			2		3
Age	13			45		42
Gender	Female			Male		Female
Lesion	Primary lesions	Implanted lesions		Primary lesions	Implanted lesions	Primary lesions	Implanted lesions
Location	Left thyroid	Left cervical region and pre-axillary subcutaneous tissue	Left sternocleidomastoid muscle	Thyroid	Subcutaneous tissue of neck	Thyroid	Breast
Number of nodules	2	2	1	2	6	2	1
Pathological diagnosis	Atypical follicular adenoma of thyroid thyroid follicular carcinoma	Thyroid follicular carcinoma	Thyroid follicular carcinoma	Follicular nodular disease	Follicular nodular disease Papillary thyroid carcinoma	Left thyroid adenoma with cystic degeneration, Right thyroid nodular goiter	Nodular goiter
Immunohistochemistry	Thyroid follicular carcinoma Ki-67（10%+）	Ki-67（30%+）	Ki-67（15%+）	/	Papillary thyroid carcinoma area HBME-1（+），TPO（-）	/	HBME-1（-）
Mutated gene	MEN1	MEN1	PTPRT （p.G855R）	-	MEN1（p.G512=） GLIS3（p.G904R） EZH1（p.Q571R） KMT2C（p.V1264A）	TERT（p.L837=） GLIS3（p.L901=） SPOP（p.P94R）	TERT（p.L837=） GLIS3（p.L901=） EIF1AX（p.P2R） KMT2C（p.R4533*）
Mutation type	Non-coding mutation	Non-coding mutation	Missense mutation	-	Synonymous mutation Missense mutation Missense mutation Missense mutation	Synonymous mutation Synonymous mutation Missense mutation	Synonymous mutation Synonymous mutation Missense mutation Nonsense mutation
Mutation frequency	47.77%	49.53%	19.21%	-	59.52% 51.67% 29.61% 5.24%	47.95% 48.79% 31.05%	47.82% 50.99% 11.46% 2.01%
Classification	Ⅳ	Ⅳ	Ⅲ	-	Ⅲ Ⅳ Ⅱ Ⅲ	Ⅳ Ⅲ Ⅱ	Ⅳ Ⅲ Ⅲ Ⅱ