Molecular identification of an ETV6-RET fusion in a secretory carcinoma associated with a pleomorphic adenoma.

Oral Surg Oral Med Oral Pathol Oral Radiol

Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

Published: December 2022

AI Article Synopsis

  • Pleomorphic adenoma (PA) is the most common type of tumor found in salivary glands, and while some carcinomas can develop from it, cases are rare.
  • This text describes the first documented case of secretory carcinoma (SC) that developed from a pleomorphic adenoma, identified through the rare ETV6-RET translocation.
  • The findings enhance our understanding of the genetic variations in tumors associated with PA and could impact how SC is diagnosed, treated, and understood in terms of prognosis.

Article Abstract

Pleomorphic adenoma (PA) is the most common neoplasm of the salivary glands. Although several carcinomas have been reported to arise from PA, only 1 case of salivary gland secretory carcinoma (SC) ex pleomorphic adenoma has been previously reported. SC is a newly described salivary gland tumor harboring an ETV6-NTRK3 translocation, which is classically observed in secretory carcinoma of the breast, although other translocations have recently been observed. We report the first case of the molecular identification of a rare ETV6-RET translocation in an SC arising from a PA in the submandibular salivary gland (SC ex PA). Our results add to the diversity of tumors that are associated with PA and contribute to the molecular characterization of SC, which will have implications on its diagnosis, prognosis, and treatment.

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Source
http://dx.doi.org/10.1016/j.oooo.2022.04.043DOI Listing

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