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免疫组织化学能否取代分子检测用于诊断乳腺样分泌性癌?

Can Immunohistochemistry Replace Molecular Test in Diagnosing Mammary Analog Secretory Carcinoma?

作者信息

Sahoo Nibedita, Mohapatra Debahuti, Lenka Anasuya, Patra Sukanya

机构信息

Department of Pathology, IMS and SUM Hospital, Bhubaneswar, Odisha, India.

出版信息

J Microsc Ultrastruct. 2022 Nov 9;12(3):155-158. doi: 10.4103/jmau.jmau_60_21. eCollection 2024 Jul-Sep.

Abstract

Mammary analog secretory carcinoma (MASC) is a distinct variant of rare, low-grade salivary gland carcinoma with characteristic genetic alteration and the ETV6-NTRK3 gene fusion. MASC is recently described in the new WHO classification of head-and-neck tumors (4 edition, 2017). The tumor has the similar morphologic, immunohistochemistry (IHC), and molecular features of mammary secretory carcinoma. Immunohistochemically, the tumor cells display strong positivity for CK7, mammaglobin, S100, MUC-4, and STAT5. In resource-constraint centers, IHC plays an important role in diagnosing MASC; however, cases with discrepancies between morphological and immunohistochemical expression, confirmation of ETV6-NTRK3 fusion gene is a must. Herein, we describe this rare entity in a young female with parotid region swelling, which on gross examination was encapsulated and on microscopy had a predominant microcystic pattern comprising polygonal cells, which were immunopositive for S100, mammaglobin, and CK7 while negative for DOG 1. Based on these findings, a final diagnosis of MASC was rendered.

摘要

乳腺样分泌性癌(MASC)是一种罕见的、低级别唾液腺癌的独特变异型,具有特征性的基因改变及ETV6-NTRK3基因融合。MASC最近在新版WHO头颈部肿瘤分类(2017年第4版)中有描述。该肿瘤具有与乳腺分泌性癌相似的形态学、免疫组化(IHC)及分子特征。免疫组化方面,肿瘤细胞对CK7、乳腺珠蛋白、S100、MUC-4及STAT5呈强阳性。在资源有限的中心,免疫组化在MASC的诊断中发挥重要作用;然而,对于形态学与免疫组化表达存在差异的病例,确认ETV6-NTRK3融合基因是必需的。在此,我们描述了一名患有腮腺区肿胀的年轻女性中的这种罕见实体瘤,大体检查见其有包膜,显微镜下主要为微囊型,由多边形细胞构成,这些细胞对S100、乳腺珠蛋白及CK7呈免疫阳性,而对DOG 1呈阴性。基于这些发现,最终诊断为MASC。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d8a/11537358/5842b3d392d9/JMAU-12-155-g001.jpg

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