TERT启动子突变印戒细胞型甲状腺滤泡癌伴多发骨转移1例  

TERT promoter mutated signet-ring cell variant follicular thyroid carcinoma with multiple bone metastasis:a case report

作　　者：张丽[1] 周隽 刘志艳 Zhang Li;Zhou Juan;Liu Zhiyan(Department of Pathology,Shanghai Sixth People′s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200233,China)

机构地区：[1]上海交通大学医学院附属第六人民医院病理科,上海200233

出　　处：《中华转移性肿瘤杂志》2023年第3期284-288,共5页Chinese Journal of Metastatic Cancer

基　　金：国家自然科学基金(81972500);上海市2023年度“科技创新行动计划”自然科学基金(23ZR1448200);上海市2020年度“科技创新行动计划”医学创新研究专项(20Z11900304);上海交通大学附属第六人民医院引进人才科研启动基金(2020)。

摘　　要：患者男, 74岁, 因"发现病理性骨折及颈前区肿块4年"入院就诊。彩超示甲状腺滤泡癌可能。PET-CT示:甲状腺恶性肿瘤可能大;左侧股骨等全身多发骨转移瘤可能大。患者行双侧甲状腺全切术+左股骨瘤段截除术+右髂骨肿瘤切除术。术后病理结果显示甲状腺滤泡癌, 包裹性血管浸润型。肿瘤由印戒细胞和透明细胞构成实性巢团结构, 查见包膜浸润及血管内瘤栓。左股骨、右髂骨转移灶形态与原发肿瘤形态及免疫表型一致:TG、TTF1、PAX8、CD56、CyclinD1阳性, Ki-67增殖指数5%~10%。实时定量PCR检测结果显示:TERT启动子(C228T)突变;BRAFV600E、RET、RAS、NTRK、PAX8-PPARγ基因均为野生型。印戒细胞型甲状腺滤泡癌罕见, 免疫组织化学染色有助于鉴别诊断其他形态学相似的肿瘤。A 74-year-old man referred to the clinic with the chief complaint of pathological bone fracture and anterior cervical mass for four years.Color Doppler ultrasound demonstrated a solid nodule in the left lobe of the thyroid gland,suggesting possible follicular thyroid carcinoma.PET-CT suggested thyroid malignancies and multiple systemic bone metastases including left femur.Total thyroidectomy,left femoral osteotomy and right iliac tumor resection were performed.The routine surgical pathology demonstrated follicular thyroid carcinoma,encapsulated angioinvasive.The carcinoma composed of signet ring cells and clear ells in a solid trabecular pattern.Metastatic carcinoma in both the left femur and the right ilium was found to be the same with the primary thyroid carcinoma both histologically and immunohistochemically,showing positive immunoreaction with TG,TTF1,PAX8,CD56 and CyclinD1.Ki-67 labelling index was 5%-10%.TERT promoter(C228T)mutation was detected by quantitative real-time polymerase chain reaction,and BRAFV600E,RET,RAS,NTRK,PAX8-PPARγwere proved to be wild type.Signet-ring cell thyroid variant follicular carcinoma is rare,and immunohistochemical staining is helpful in differentiating the diagnosis of other morphologically similar tumors.

关 键 词：印戒细胞型 甲状腺滤泡癌 TERT启动子 

分 类 号：R736.1[医药卫生—肿瘤]