我们推测，原有的多形性腺瘤（pleomorphic adenoma，PA）与上皮-肌上皮癌（epithelial-myoepithelial carcinomas，EMCA）的组织学分级和分子遗传学改变之间存在某种联系。研究人员从预先存在的PA形态学和分子遗传学证据方面对EMCA（n=39）进行了分析[应用荧光原位杂交（fluorescence in situ hybridization,FISH）检测PLAG1、HMGA2分子改变，应用新一代测序技术（next-generation sequencing，NGS）检测FGFR-PLAG1基因融合情况]。进一步应用NGS对其中23例EMCA的50个肿瘤相关基因突变和拷贝数进行检测。基于PA的形态学特征和分子改变，EMCA被归为以下4类：（a）具有预先存在的PA形态学特征，但PLAG1和HMGA2无异常改变（12/39，31%）的EMCA；（B）癌组织存在PLAG1改变（9/39，23%）；（c）癌组织存在HMGA2改变(10/39，26%)；(d）不存在PA形态学特征和分子改变的原发EMCA(8/39，21%)。12例高级别EMCA(12/39,31%)分布于上述所有类型中。EMCA患者的中位无病生存期是80个月（95%置信区间，77～84个月）。无病生存期和其他临床病理参数在上述4类EMCA间无显著差异。HRAS突变更多见于PLAG1和HMGA2无异常改变的EMCA(7/9 vs.1/14，P<0.001)病例。其他的分子遗传学改变[TP53（n=2）,FBXW7(N=1),SMARCB1缺失(n=1)]仅见于PLAG1和HMGA2无异常改变的高级别EMCA病例。综上所述，我们认为多数EMCA起源于原有的PA(31/39,80%),EMCA的分子遗传学改变在是否伴有预先存在的PA病例之间不同，并和其自身的细胞遗传学特征相关。不伴PLAG1和HMGA2异常改变的EMCA出现高级别转化与TP53、FBXW7突变或者SMARCB1缺失相关。
Am J Surg Pathol 2018;42:18-27
美国外科病理学杂志中文版2018年第二期摘要No.3
美国外科病理学杂志中文版2018年第二期摘要No.3
(马怡晖 翻译 石怀银 审校）
The American Journal of Surgical Pathology中文版声明：
2018 Wolters Kluwer Health
2018 Wolters Kluwer Health
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