Molecular Profiling of Mammary Analog Secretory Carcinoma Revealed a Subset of Tumors Harboring a Novel ETV6-RET Translocation: Report of 10 Cases

Am J Surg Pathol. 2018 Feb;42(2):234-246. doi: 10.1097/PAS.0000000000000972.

Abstract

ETV6 gene abnormalities are well described in tumor pathology. Many fusion partners of ETV6 have been reported in a variety of epithelial, mesenchymal, and hematological malignancies. In salivary gland tumor pathology, however, the ETV6-NTRK3 translocation is specific for (mammary analog) secretory carcinoma, and has not been documented in any other salivary tumor type. The present study comprised a clinical, histologic, and molecular analysis of 10 cases of secretory carcinoma, with typical morphology and immunoprofile harboring a novel ETV6-RET translocation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics*
  • ETS Translocation Variant 6 Protein
  • Female
  • Gene Expression Profiling / methods*
  • Gene Fusion*
  • Genetic Predisposition to Disease
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Male
  • Mammary Analogue Secretory Carcinoma / chemistry
  • Mammary Analogue Secretory Carcinoma / genetics*
  • Mammary Analogue Secretory Carcinoma / pathology
  • Middle Aged
  • Phenotype
  • Predictive Value of Tests
  • Proto-Oncogene Proteins c-ets / genetics*
  • Proto-Oncogene Proteins c-ret / genetics*
  • Registries
  • Repressor Proteins / genetics*
  • Salivary Gland Neoplasms / chemistry
  • Salivary Gland Neoplasms / genetics*
  • Salivary Gland Neoplasms / pathology
  • Transcriptome
  • Translocation, Genetic*

Substances

  • Biomarkers, Tumor
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • Proto-Oncogene Proteins c-ret
  • RET protein, human