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Mammary analog secretory carcinoma, low-grade salivary duct carcinoma, and mimickers: a comparative study.

涎腺乳腺样分泌型癌、低级别涎腺导管癌和相似肿瘤:一组比较研究

Stevens TM,Kovalovsky AO,Velosa C,Shi Q,Dai Q,Owen RP,Bell WC,Wei S,Althof PA,Sanmann JN,Sweeny L,Carroll WR,Siegal GP,Bullock MJ,Brandwein-Gensler M
阅读:572 Modern PathologyAug 2015; 28 (8): 1012 - 1149:1084-100 

Abstract

Mammary analog secretory carcinoma (MASC) is a recently recognized low-grade salivary carcinoma characterized by a specific ETV6 rearrangement. We describe 14 new MASCs and examine their immunophenotypic and genetic profiles in the context of look-alikes, namely, low-and high-grade salivary duct carcinoma and acinic cell carcinoma. ETV6 rearrangement, and robust expression of mammaglobin and S100, were demonstrated in 11/11, 14/14, and 12/14 MASCs, respectively. All low-grade salivary duct carcinomas coexpressed S100/mammaglobin (6/6); none harbored ETV6 rearrangements (0/5). Given that S100/mammaglobin coexpression and absence of zymogen granules are features of both MASC and low-grade salivary duct carcinoma, these two are best distinguished histologically. The former is predominantly an extraductal neoplasm with bubbly pink cytoplasm, whereas the latter is a distinct intraductal micropapillary and cribriform process. Querying ETV6 gene status may be necessary for difficult cases. No acinic cell carcinoma expressed mammaglobin (0/13) or harbored an ETV6 rearrangement (0/7); only 1/13 acinic cell carcinomas weakly expressed S100. DOG1 expression was limited or absent among all tumor types, except acinic cell carcinoma which expressed DOG1 diffusely in a canalicular pattern. Therefore, histology and immunohistochemistry (mammaglobin, S100, DOG1) suffices in distinguishing acinic cell carcinoma from both MASC and low-grade salivary duct carcinoma. HER2 (ERBB2) amplification was detected in only 1/10 acinic cell carcinomas, but none of the MASCs or low-grade salivary duct carcinomas tested. High-grade salivary duct carcinomas frequently expressed mammaglobin (11/18) and harbored HER2 amplifications (13/15); none harbored ETV6 rearrangements (0/12). High-grade salivary duct carcinomas can easily be distinguished from these other entities by histology and HER2 amplification.

摘要

涎腺乳腺样分泌型癌(MASC)是一种最近被认识的涎腺低级别癌,具有特征性ETV6基因重排。我们描述了14例新诊断的MASC,检测其免疫表型和基因状态,并与一系列形态相似肿瘤即低级别和高级别涎腺导管癌及腺泡细胞癌对比。ETV6基因重排及乳腺球蛋白和S100强表达在MASC分别为11/11、14/14和12/14。所有低级别涎腺导管癌同时表达S100/乳腺球蛋白表达(6/6);未检测出ETV6基因重排(0/5)。鉴于S100 /乳腺球蛋白同时表达与缺乏酶原颗粒均是MASC和低级别涎腺导管癌的特征,两者最好从组织学上鉴别。前者主要是导管外肿瘤,瘤细胞显示泡沫状粉红色细胞浆;而后者显示独特的导管内微乳头和筛状结构。诊断困难病例ETV6基因状态检测是必须的。腺泡细胞癌不表达乳腺球蛋白(0/13)或未检测出ETV6基因重排(0/7);只有1/13腺泡细胞癌S100弱表达。除了腺泡细胞癌表达DOG1,呈弥漫小管状阳性模式外,所有类型肿瘤DOG1表达有限或不表达。因此,组织学和免疫组化(乳腺球蛋白、S100和DOG1)足够用于鉴别腺泡细胞癌与MASC和低级别涎腺导管癌。只有1/10腺泡细胞癌检测到HER2(ERBB2)扩增,但在MASC与低级别涎腺导管癌均未检测出。高级别涎腺导管癌常常表达乳腺球蛋白(11/18)并显示HER2扩增(13/15);未检测到ETV6基因重排(0/12)。高级别涎腺导管癌通过组织学形态和HER2基因扩增易与其它疾病鉴别。
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