Fusion-positive salivary gland carcinomas

Genes Chromosomes Cancer. 2022 May;61(5):228-243. doi: 10.1002/gcc.23020. Epub 2022 Jan 6.

Abstract

Salivary gland tumors are a rare, heterogeneous group of neoplasms that pose significant diagnostic challenges for the histopathologist. Histopathological diagnosis relies primarily on morphological assessment, with ancillary special stains and immunohistochemistry. In recent years, new defining genomic alterations have been characterized in these tumors. In particular, they include gene fusions which have shown to be tightly tumor-type specific, and thus valuable for use in diagnostically challenging cases. These discoveries also help in refining tumor classification. Furthermore, such genetic alterations may have prognostic as well as potentially therapeutic implications in the era of personalized medicine. This review aims at providing a summary of the most recent updates in this field.

Keywords: NTRK; RET; fusion oncogene; molecular testing; predictive; salivary gland carcinoma.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Carcinoma*
  • Gene Fusion
  • Humans
  • Oncogene Proteins, Fusion / genetics
  • Salivary Gland Neoplasms* / diagnosis
  • Salivary Gland Neoplasms* / genetics
  • Salivary Glands

Substances

  • Biomarkers, Tumor
  • Oncogene Proteins, Fusion