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Morphology in Conjunction with Immunohistochemistry is Sufficient for the Diagnosis of Mammary Analogue Secretory Carcinoma

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Abstract

The recently described mammary analogue secretory carcinoma (MASC) is a low-grade salivary gland malignancy that harbors the recurrent cytogenetic abnormality t(12;15) (p13;q25) ETV6-NTRK3. Confirmation of this is currently considered the gold standard for diagnosis. Some have postulated that morphology together with supporting immunohistochemistry is sufficient to diagnose MASC. In this study we retrospectively review a series of 19 MASCs diagnosed based on histology in conjunction with immunohistochemistry; subsequently we performed in situ hybridization using an ETV6 break-apart probe. Immunohistochemistry for S100 protein and mammaglobin as well as fluorescence in situ hybridization using the Vysis ETV6 Dual Color Break-Apart FISH Probe Kit were performed on all cases. The 19 cases were from 12 females and 7 males with ages ranging from 16 to 76 years (mean = 45 years). Sixteen cases were from the parotid gland, 1 case was from a periparotid lymph node and 2 cases were from the submandibular gland. All 19 cases demonstrated moderate to strong expression of S100 protein. Eighteen cases demonstrated strong, diffuse expression of mammaglobin, while one case had only rare tumor cells that strongly expressed mammaglobin. Eighteen of 19 cases (95 %) demonstrated the ETV6 rearrangement by fluorescence in situ hybridization. Given that morphology together with immunohistochemistry is highly correlated with the ETV6 gene rearrangement, we conclude that molecular confirmation is not required to diagnose MASC.

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Acknowledgments

Special thanks to Harriet Scruggs for allowing us to use her laboratory expertise in fluorescence in situ hybridization.

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No conflicts of interest.

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Authors and Affiliations

  1. Department of Pathology, University of Virginia Health System, 1215 Lee St., MC, 800214, Jefferson Park Ave., Charlottesville, VA, 22908, USA

    Akeesha A. Shah, Robin D. LeGallo, Stacey E. Mills & Edward B. Stelow

  2. Department of Pathology, Mount Sinai Health System-Beth Israel Medical Center, First Avenue at 16th Street, Silver 11; Room 34, New York, NY, 10003, USA

    Bruce M. Wenig

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  1. Akeesha A. Shah
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  2. Bruce M. Wenig
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  3. Robin D. LeGallo
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Correspondence to Edward B. Stelow.

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Shah, A.A., Wenig, B.M., LeGallo, R.D. et al. Morphology in Conjunction with Immunohistochemistry is Sufficient for the Diagnosis of Mammary Analogue Secretory Carcinoma. Head and Neck Pathol 9, 85–95 (2015). https://doi.org/10.1007/s12105-014-0557-1

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