(Mammary Analogue) Secretory Carcinoma of the Nasal Cavity: Report of a Rare Case with p63 and DOG1 Expression and Uncommon Exon 4-Exon 14 ETV6-NTRK3 Fusion Diagnosed with Next Generation Sequencing

Head Neck Pathol. 2020 Jun;14(2):542-549. doi: 10.1007/s12105-019-01051-z. Epub 2019 Jul 4.

Abstract

We present a 72 years old male with a left nasal cavity (mammary analogue) secretory carcinoma (SC) which exhibited classical morphological features on light microscopical examination, diffuse strong S100 and mammoglobin positivity on immunohistochemistry, and ETV6-NTRK3 gene fusion on next generation sequencing (NGS) analysis. Unusual features of this tumor are expression of p63 and DOG1 on immunohistochemistry and the atypical junction between Exon 4 of the ETV6 gene and Exon 14 of the NTRK3 gene.

Keywords: ETV6-NTRK3 fusion protein, human; Immunohistochemistry; Mammary analogue secretory carcinoma; Nasal cavity.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Anoctamin-1 / biosynthesis
  • Biomarkers, Tumor / analysis*
  • ETS Translocation Variant 6 Protein
  • Exons / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Mammary Analogue Secretory Carcinoma / genetics*
  • Mammary Analogue Secretory Carcinoma / pathology
  • Membrane Proteins / biosynthesis
  • Nasal Cavity / pathology*
  • Neoplasm Proteins / biosynthesis
  • Nose Neoplasms / genetics*
  • Nose Neoplasms / pathology
  • Oncogene Proteins, Fusion / genetics*
  • Receptor, trkC
  • Sequence Analysis, DNA

Substances

  • Anoctamin-1
  • Biomarkers, Tumor
  • Membrane Proteins
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • ANO1 protein, human
  • CKAP4 protein, human
  • ETV6-NTRK3 fusion protein, human
  • Receptor, trkC
  • ETS Translocation Variant 6 Protein