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Searching for mammary analog secretory carcinoma of salivary gland among its mimics.

从疑似病例中筛查唾液腺乳腺样分泌型癌

Pinto A,Nosé V,Rojas C,Fan YS,Gomez-Fernandez C

Abstract

Mammary analog secretory carcinoma of salivary gland is a recently described entity with unique morphologic, clinical, and genetic characteristics, including the characteristic t(12;15)(p13;q25) with ETV6-NTRK3 translocation found in secretory carcinomas of the breast. Before their initial description, these salivary gland tumors were generally diagnosed as acinic cell carcinoma or adenocarcinoma. For the purpose of this study, all cases of salivary gland acinic cell carcinoma, cribriform cystadenocarcinoma, and adenocarcinoma, not otherwise specified (NOS), diagnosed over a 10-year period were retrieved from our surgical pathology files. There were a total of 11 cases diagnosed as acinic cell carcinoma, 10 cases of adenocarcinoma, NOS, and 6 cases of cribriform cystadenocarcinoma. All slides were reviewed by two pathologists (AP, CGF) and tumors that show morphologic features of mammary analog secretory carcinoma according to the recent literature were selected. This process narrowed down the initial number to six cases originally diagnosed as acinic cell carcinoma, three cases originally diagnosed as adenocarcinoma, NOS, and one case originally diagnosed as cribriform cystadenocarcinoma. The 10 cases were subjected to immunohistochemistry for S-100, mammaglobin, and ANO1, as well as fluorescence in situ hybridization analysis for t(12;15)(p13;q25) with ETV6-NTRK3 fusion rearrangement. The ETV6-NTRK3 gene rearrangement was detected in three tumors. These three tumors, initially diagnosed as acinic cell carcinomas, stained positive for S-100 and mammaglobin, and negative for ANO1 by immunohistochemistry. Two of the three patients were male (2/3). In summary, mammary analog secretory carcinoma is a newly described diagnostic entity that should be in the differential diagnosis of salivary gland tumors that morphologically mimic other neoplasms, mainly acinic cell carcinomas. They differ from conventional acinic cell tumors immunohistochemically and molecularly. Positivity for mammaglobin and S-100, and negativity for ANO1 are useful screening tools before confirmatory molecular studies.

摘要

近年来唾液腺乳腺样分泌型癌被叙述为具有独特的形态学,临床和遗传特征, 包括具有在乳腺分泌型癌中发现的伴有ETV6-NTRK3融合蛋白的t(12;15)(p13;q25)易位特征。在最初描述之前,这些唾液腺肿瘤通常诊断为腺泡细胞癌或腺癌。 本研究的目的是把超过10年时期内诊断的未另作详细说明的所有的唾液腺腺泡细胞癌,筛状囊腺癌和腺癌病例从我们的外科病理学文档中检索出来。共检索有11例诊断为腺泡细胞癌,10例腺癌和6例筛状囊腺癌的病例。然后所有组织切片都由两个病理学家(AP,CGF)进行审核,并且根据近期文献描述,选择那些显示乳腺样分泌型癌形态学特征的肿瘤病例。这个过程把病例数从最初缩小到6例原诊为腺泡细胞癌,3例原为腺癌和一例原为筛状囊腺癌。这10例标本随后进行s-100,乳腺珠蛋白和ANO1免疫组化检测以及对伴有ETV6-NTRK3融合的t(12、15)(p13;q25)重排进行荧光原位杂交分析。三个肿瘤标本检测出ETV6-NTRK3基因重排。这三个最初诊断为腺泡细胞癌标本,免疫组化上表现为s-100和乳腺珠蛋白阳性以及ANO1阴性。三个患者中两个是男性(2/3)。总之,唾液腺乳腺样分泌型癌是一种最近才被描述的诊断实体。它应该在形态学上与其他肿瘤尤其是腺泡细胞癌相似的唾液腺瘤进行鉴别诊断。它与传统的腺泡细胞癌在免疫组化和分子学上不一样。在分子学实验验证之前,s -100和乳腺珠蛋白阳性以及ANO1阴性是很有用的筛查工具。

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