Abstract

目的: 分析柱状细胞型甲状腺乳头状癌(columnar cell variant of papillary thyroid carcinoma,CCV-PTC)的临床病理特征及预后,并着重探讨甲状腺癌常见驱动基因突变状态。 方法: 回顾性分析7例CCV-PTC的临床资料及组织学形态,EnVision法进行免疫表型分析,突变阻滞扩增系统(ARMS)-PCR检测BRAF V600E基因突变,Sanger测序检测RAS及端粒酶逆转录酶基因(TERT)启动子基因突变。 结果: 男性4例,女性3例,年龄29~65岁。组织学肿瘤细胞呈柱状、假复层排列,7例均表达甲状腺滤泡上皮标记,1例表达CDX2,p53均呈野生型表达。4例存在BRAF V600E突变(4/7),4例存在TERT启动子突变(4/5),5例均未见RAS突变(0/5)。术后随访8~89个月,4例出现肿瘤复发,2例死亡。 结论: CCV-PTC以柱状肿瘤细胞假复层排列为特征,可表达CDX2,具有较高的BRAF V600E及TERT启动子突变率,浸润性生长者预后较差。.

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