SMARC-B1 deficient sinonasal carcinoma metastasis to the brain with next generation sequencing data: a case report of perineural invasion progressing to leptomeningeal invasion

BMC Cancer. 2019 Aug 22;19(1):827. doi: 10.1186/s12885-019-6043-0.


Background: SMARCB1-deficient sinonasal carcinoma (SDSC) is an aggressive subtype of head and neck cancers that has a poor prognosis despite multimodal therapy. We present a unique case with next generation sequencing data of a patient who had SDSC with perineural invasion to the trigeminal nerve that progressed to a brain metastasis and eventually leptomeningeal spread.

Case presentation: A 42 year old female presented with facial pain and had resection of a tumor along the V2 division of the trigeminal nerve on the right. She underwent adjuvant stereotactic radiation. She developed further neurological symptoms and imaging demonstrated the tumor had infiltrated into the cavernous sinus as well as intradurally. She had surgical resection for removal of her brain metastasis and decompression of the cavernous sinus. Following her second surgery, she had adjuvant radiation and chemotherapy. Several months later she had quadriparesis and imaging was consistent with leptomeningeal spread. She underwent palliative radiation and ultimately transitioned quickly to comfort care and expired. Overall survival from time of diagnosis was 13 months. Next generation sequencing was carried out on her primary tumor and brain metastasis. The brain metastatic tissue had an increased tumor mutational burden in comparison to the primary.

Conclusions: This is the first report of SDSC with perineural invasion progressing to leptomeningeal carcinomatosis. Continued next generation sequencing of the primary and metastatic tissue by clinicians is encouraged toprovide further insights into metastatic progression of rare solid tumors.

Keywords: Head and neck carcinoma; Leptomeningeal carcinomatosis; Next generation sequencing; Perineural invasion; SMARCB1 deficient sinonasal carcinoma.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biomarkers, Tumor
  • Carcinoma / diagnostic imaging
  • Carcinoma / etiology*
  • Carcinoma / pathology*
  • Disease Progression
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunohistochemistry
  • Meningeal Carcinomatosis / diagnosis
  • Meningeal Carcinomatosis / secondary
  • Neoplasm Metastasis
  • Neoplasm Staging
  • Paranasal Sinus Neoplasms / diagnostic imaging
  • Paranasal Sinus Neoplasms / etiology*
  • Paranasal Sinus Neoplasms / pathology*
  • Polymorphism, Single Nucleotide
  • SMARCB1 Protein / deficiency*
  • Tomography, X-Ray Computed


  • Biomarkers, Tumor
  • SMARCB1 Protein
  • SMARCB1 protein, human