Abstract

Objective. Secretory carcinoma is a recently described entity with characteristic immunoprofile and ETV6 (12p13) rearrangement. Before its initial description, it was generally diagnosed as acinic cell carcinoma (ACCi). We evaluated immunoprofile and ETV6 rearrangement in cytological and surgical cases of previously diagnosed ACCi, in an attempt to identify any misclassified SC. Methods. Fifteen cytology and surgical cases of ACCi diagnosed over a 13-year period were retrieved and subjected to immunohistochemistry for S-100, mammaglobin, GATA-3 and DOG-1 as well as FISH for ETV6 (12p13). Results. Of the 8 cytology cases, only 1 was positive for S100, GATA-3, and mammaglobin, and negative for DOG-1. It also demonstrated ETV6 rearrangement and was reclassified as SC. The same immunoprofile was present in 2 of the 13 surgical cases. ETV6 rearrangement characterized by 3′ interstitial deletion was detected in one of these cases and was reclassified as SC. Immunohistochemistry and ETV6 rearrangement were useful in identifying 2 (13.3%) cases misclassified as ACCi. Conclusions. Characteristic immunoprofile and ETV6 gene rearrangement may prove useful in identifying cases of SC. The presence of ETV6 3′ interstitial deletion in one of our cases suggests that there may be additional ETV6 related genetic alterations contributing to the pathogenesis of SC.

Highlights

  • Secretory carcinoma (SC), previously called mammary analogue secretory carcinoma, is a recently described salivary gland malignancy that bears a striking resemblance to secretory carcinoma of the breast [1]

  • The demographics and ancillary test findings of all cytology cases and surgical cases are summarized in Tables 1 and 2, Figure 1: ETV6-NTRK fusion transcript translocation seen by FISH

  • Acinic cell carcinoma is a low-grade salivary gland carcinoma characterized by serous differentiation

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Summary

Introduction

Secretory carcinoma (SC), previously called mammary analogue secretory carcinoma, is a recently described salivary gland malignancy that bears a striking resemblance to secretory carcinoma of the breast [1]. It shares the immunophenotype and the characteristic ETV6-NTRK3 translocation of secretory breast carcinoma. Prior to its initial description as a distinctive salivary gland neoplasm, SC was erroneously misdiagnosed as adenocarcinoma (not otherwise specified), mucoepidermoid carcinoma, and especially acinic cell carcinoma (ACCi) [2, 3]. The purpose of this study was to evaluate the immunoprofile and ETV6 (12p13) gene rearrangement in cytological as well as surgical cases of previously diagnosed ACCi at our institution, in an attempt to identify any misclassified SC cases

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