摘要:涎腺肿瘤是一组形态学上具有异质性的病变,经常带来诊断上的挑战。近年来,一些由染色体易位所致的肿瘤类型特异性融合基因的发现促进了涎腺肿瘤命名学上的巨大进展。本文综述了一组选定涎腺癌的临床病理特征,重点描述其独特的基因组特征。乳腺样分泌性癌是最近描述的实体,其特征性的改变是通过t(12;15)(p13;q25)易位导致ETV6-NTRK3融合。玻璃样透明细胞癌是一种低级别肿瘤,淋巴结转移和远处转移较少见,最近发现其具有EWSR1-ATF1基因融合。无论是低级别还是高级别黏液表皮样癌,由t(11;19)(q21;p13)易位引起的CRTC1-MAML2融合基因已经被认为是其一个特征性改变,并与生存率的提高相关。在大多数腺样囊性癌中,都可鉴定出由t(6;9)(q22-23;p23-34)易位引起的MYB-NFIB融合基因。多形性(低度恶性)腺癌和(小)涎腺源性筛状腺癌是在临床病理和基因组图谱上有部分不同的相关类型,正在引起分类方面的争论。多形性(低度恶性)腺癌的特点是PRKD1基因中热点E710D的点突变,而(小)涎腺源性筛状腺癌的特点是有关PRKD1-3基因的易位。涎腺导管癌(salivary duct carcinoma,SDC)是一种具有类似于乳腺浸润性导管癌形态学和分子特征的高级别癌,包括HER2基因的扩增、TP53、PIK3CA和HRAS的突变以及PTEN的缺失或突变。值得注意的是,在SDC中也发现了NCOA4-RET基因的重现性融合。SDC中一个具备大汗腺形态的亚型与雄激素受体的过度表达有关。由于这些基因异常可以重复检测到,因此,它们可以作为涎腺肿瘤诊断中强有力的诊断工具,并可促进涎腺癌分类的优化。此外,它们还有望成为预后的生物标记物及治疗靶点。
关键词:涎腺癌,乳腺样分泌性癌,黏液表皮样癌,玻璃样透明细胞癌,腺样囊性癌,涎腺导管癌,多形性腺癌,筛状腺癌,融合癌基因,分子检测
Am J Surg Pathol 2018;42:e11-e27
美国外科病理学杂志中文版2018年第二期全文No.4
美国外科病理学杂志中文版2018年第二期全文No.4
吕新全 翻译 李文才 审校
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