SOX11 expression in a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma containing BRAF c.1799_1801delTGA and CTNNB1 c.133T>C mutations

Virchows Arch. 2019 Oct;475(4):519-525. doi: 10.1007/s00428-019-02619-4. Epub 2019 Jul 20.

Abstract

We describe a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma (PTC-FLS) that contained the rare BRAF c.1799_1801delTGA (p.V600_K601delinsE) mutation, which has not previously been reported in this tumour, as well as the CTNNB1 c.133T>C (p.S45P) mutation. We also report the novel observation that spindle cells of the mesenchymal component exhibit diffuse nuclear but not cytoplasmic expression of SOX11, whereas the malignant epithelial cells did not. This suggests that immunoreactivity for SOX11 can be an alternative diagnostic tool for evaluating cases of PTC-FLS where the nuclear expression of β-catenin is ambiguous.

Keywords: BRAF; Fibromatosis/fasciitis-like stroma; Mutation; Papillary thyroid carcinoma; SOX11; β-Catenin.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Proto-Oncogene Proteins B-raf / genetics
  • SOXC Transcription Factors / biosynthesis*
  • Thyroid Cancer, Papillary / genetics
  • Thyroid Cancer, Papillary / metabolism
  • Thyroid Cancer, Papillary / pathology*
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / metabolism
  • Thyroid Neoplasms / pathology*
  • beta Catenin / genetics

Substances

  • CTNNB1 protein, human
  • SOX11 protein, human
  • SOXC Transcription Factors
  • beta Catenin
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf