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

Mod Pathol. 2015 Aug;28(8):1084-100. doi: 10.1038/modpathol.2015.64. Epub 2015 Jun 19.

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.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Anoctamin-1
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics
  • Chloride Channels / analysis
  • Diagnosis, Differential
  • ETS Translocation Variant 6 Protein
  • Female
  • Gene Amplification
  • Gene Rearrangement
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Male
  • Mammary Analogue Secretory Carcinoma / chemistry
  • Mammary Analogue Secretory Carcinoma / diagnosis*
  • Mammary Analogue Secretory Carcinoma / genetics
  • Mammary Analogue Secretory Carcinoma / pathology
  • Middle Aged
  • Neoplasm Proteins / analysis
  • Neoplasm Staging
  • Predictive Value of Tests
  • Proto-Oncogene Proteins c-ets / genetics
  • Receptor, ErbB-2 / genetics
  • Repressor Proteins / genetics
  • S100 Proteins / analysis
  • Salivary Gland Neoplasms / chemistry
  • Salivary Gland Neoplasms / diagnosis*
  • Salivary Gland Neoplasms / genetics
  • Salivary Gland Neoplasms / pathology
  • Secretoglobins / analysis
  • Young Adult

Substances

  • ANO1 protein, human
  • Anoctamin-1
  • Biomarkers, Tumor
  • Chloride Channels
  • Neoplasm Proteins
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • S100 Proteins
  • Secretoglobins
  • ERBB2 protein, human
  • Receptor, ErbB-2