伴EWSR1基因重排的原发性甲状腺软组织透明细胞肉瘤1例报告及文献复习

doi:10.13481/j.1671-587X.20260527

摘要/Abstract

摘要：

甲状腺肿瘤主要分为上皮源性肿瘤和非上皮源性肿瘤，其中上皮源性肿瘤占甲状腺肿瘤的95%~99%，来源于滤泡上皮细胞；非上皮源性肿瘤多起源于淋巴组织；另有极少部分肿瘤起源于间叶组织，又称间叶源性肿瘤，占比不足0.5%。软组织透明细胞肉瘤（CCSST）作为特殊类型的间叶源性肿瘤更为罕见，且预后较差。国内外尚未见原发性甲状腺CCSST相关病例的报道。本文作者报道1例原发性甲状腺CCSST患者，其肿瘤经基因检测证实伴有EWSR1基因重排（22q12断裂），并进行相关文献复习，总结其临床特点与诊疗经验。患者，女性，57岁，10余年前因甲状腺功能亢进症行核素治疗后定期复查，1年前体检发现甲状腺结节，进一步评估后入院行甲状腺双叶全切除术。术后石蜡病理和免疫组织化学检测提示肿瘤细胞S-100及性别决定区Y框蛋白10（SOX10）阳性和人黑色素瘤抗原45（HMB45）阴性，荧光原位杂交（FISH）技术检测证实存在EWSR1基因重排（22q12断裂），明确诊断为原发性甲状腺CCSST伴EWSR1基因重排；术后正电子发射断层显像-计算机断层扫描（PET-CT）检查排除全身其他部位转移。临床工作中，对于特殊类型甲状腺肿瘤患者的罕见基因（EWSR1基因等）应予以重视，并制定个体化诊疗方案及随访计划，以实现肿瘤早期识别和精准干预，从而改善患者长期预后。

关键词: 甲状腺间叶源性恶性肿瘤, 软组织透明细胞肉瘤, 原发性肿瘤, 甲状腺, EWSR1基因, 病例报告

Abstract:

Thyroid tumors are mainly classified into epithelial and non-epithelial types， among which epithelial tumors account for 95%-99% and originate from follicular epithelial cells. Non-epithelial tumors mostly arise from lymphoid tissue， and a very small proportion originate from mesenchymal tissue， also known as mesenchymal tumors， accounting for less than 0.5%. Clear cell sarcoma of soft tissue （CCSST）， as a special type of mesenchymal tumor， is exceptionally uncommon and associated with an unfavorable prognosis. This article reported a case of primary thyroid CCSST in a patient whose tumor was confirmed by genetic testing to carry EWSR1 gene rearrangement （22q12 break）， and the relevant literatures were reviewed to summarize the clinical characteristics and experience in diagnosis and treatment. The patient， a 57-year-old female， underwent regular follow-up after radionuclide therapy for hyperthyroidism more than 10 years ago. A thyroid nodule was detected during the physical examination one year ago， and after further evaluation， she was admitted for total bilateral thyroidectomy. Postoperative paraffin pathology and immunohistochemistry showed that the tumor cells were positive for S-100 and sex-determining region Y-box 10（SOX10） and negative for human melanoma black 45（HMB45）. Fluorescence in situ hybridization （FISH） confirmed the presence of EWSR1 gene rearrangement （22q12 break）， leading to a definite diagnosis of primary thyroid CCSST with EWSR1 gene rearrangement. Postoperative positron emission tomography-computed tomography （PET-CT） excluded metastasis elsewhere in the body. In clinical practice， rare genetic alterations， such as EWSR1 rearrangement， should be carefully considered in the patients with unusual thyroid tumors. Individualized diagnosis and therapeutic strategies， together with long-term follow-up schedules should be formulated to achieve early identification and precise intervention， thereby improving the long-term prognosis of patients.

Key words: Thyroid mesenchymal malignancy, Clear cell sarcoma of soft tissue, Primary tumor, Thyroid, EWSR1 gene, Case report

中图分类号:

R736.1

刘俊茗,李婧婷,梁楠,张婉宁,付言涛. 伴EWSR1基因重排的原发性甲状腺软组织透明细胞肉瘤1例报告及文献复习[J]. 吉林大学学报(医学版), 2026, 52(5): 1460-1466.

Junming LIU,Jingting LI,Nan LIANG,Wanning ZHANG,Yantao FU. Primary thyroid clear cell sarcoma of soft tissue with EWSR1 gene rearrangement: A case report and literature review[J]. Journal of Jilin University(Medicine Edition), 2026, 52(5): 1460-1466.

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