β-catenin (CTNNB1) Mutation and LEF1 Expression in Sinonasal Glomangiopericytoma (Sinonasal-Type Hemangiopericytoma)

Virchows Arch. 2018 Aug;473(2):235-239. doi: 10.1007/s00428-018-2370-9. Epub 2018 May 7.

Abstract

Sinonasal glomangiopericytoma (SN-GPC) is an uncommon mesenchymal tumor with myoid differentiation. Recently, mutations in exon 3 of the gene coding for β-catenin (CTNNB1) and its nuclear expression were discovered in SN-GPC. β-catenin protein is a key regulatory molecule of the canonical Wnt signaling pathway. The expression of β-catenin target proteins is not well characterized in SN-GPC. We examined three SN-GPCs by immunohistochemistry and CTNNB1 mutation analysis. All cases expressed nuclear β-catenin. We identified CTNNB1 exon 3 mutations in two analyzable cases. Lymphoid enhancer-binding factor 1 (LEF1), a protein downstream from β-catenin, was also expressed in all cases. Our results further characterized the activation of the Wnt signaling pathway caused by CTNNB1 exon 3 mutation and suggest the utility of LEF1 immunohistochemistry in the differential diagnosis of SN-GPC.

Keywords: CTNNB1; LEF1; Sinonasal glomangiopericytoma; β-catenin.

MeSH terms

  • Aged, 80 and over
  • Biomarkers, Tumor* / analysis
  • Biomarkers, Tumor* / genetics
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Glomus Tumor / chemistry*
  • Glomus Tumor / genetics*
  • Glomus Tumor / pathology
  • Hemangiopericytoma / chemistry*
  • Hemangiopericytoma / genetics*
  • Hemangiopericytoma / pathology
  • Humans
  • Immunohistochemistry
  • Lymphoid Enhancer-Binding Factor 1 / analysis*
  • Male
  • Middle Aged
  • Mutation*
  • Nose Neoplasms / chemistry*
  • Nose Neoplasms / genetics*
  • Nose Neoplasms / pathology
  • Predictive Value of Tests
  • Wnt Signaling Pathway / genetics
  • beta Catenin / genetics*

Substances

  • Biomarkers, Tumor
  • CTNNB1 protein, human
  • LEF1 protein, human
  • Lymphoid Enhancer-Binding Factor 1
  • beta Catenin