Salivary Gland Anlage Tumor: Molecular Profiling Sheds Light on a Morphologic Question

Publication date: Available online 3 December 2018

Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

Author(s): Scott M. Peters, Andrew T. Turk

Abstract

Objective

: The salivary gland anlage tumor (SGAT), previously described as a squamous proliferative lesion or "congenital pleomorphic adenoma," is a rare, benign entity that presents within the first months of life. It occurs almost exclusively in the nasopharynx or posterior nasal cavity, and demonstrates a biphasic composition of epithelial and mesenchymal elements. Although the clinical and histologic features of SGAT are well described, its etiology remains poorly understood. SGAT is currently considered a hamartoma rather than a neoplasm, partly due to its benign behavior and lack of reported recurrence following treatment. However, investigators have not yet evaluated this concept using genomic methods.

Study Design

: In the current study, we present three cases of SGAT on which we performed whole-exome sequencing (WES).

Results

: Examination of sequence data, with specific attention to variants affecting 964 cancer-related genes, showed no plausible driver-type alterations.

Conclusion

: The lack of apparent driver mutations supports the classification of this entity as a hamartomatous (non-neoplastic) process.

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