SMARCB1-Deficient Sinonasal Carcinoma: Systematic Review and Case Report

World Neurosurg. 2020 Apr:136:305-310. doi: 10.1016/j.wneu.2020.01.130. Epub 2020 Jan 27.

Abstract

Introduction: To describe the current state of literature involving SMARCB1/INI-1 deficient sinonasal carcinoma (SDSC) and examine a case at our institution.

Methods: A systematic search was performed using the Population, Intervention, Comparator, Outcome, and Study Design approach. Search criteria included all occurrences in the title or abstract of the terms: "integrase interactor 1 deficient," "INI1 deficient," or "SMARCB1 deficient" and "sinonasal carcinoma." The main outcomes were disease-free survival, all-cause mortality, rates of recurrence, or metastases.

Results: Systematic search yielded 13 studies for final review. All studies were either case series or case reports with 82 cases of SDSC published since 2014. Age on presentation ranged from 19 to 75 years, with the majority of patients being male. Surgical resection was the primary modality of treatment with adjuvant radiation or chemoradiation therapy. Overall, the prognosis was poor, with most tumors presenting at advanced stages with an overall median (range) survival of 22 (12-44) months with an average (standard deviation) of 45.3% (33.1%) of patients dying of the disease. An average (standard deviation) of 38.2% (34.0%) of patients had no evidence of disease at follow-up. Studies comparing sinonasal undifferentiated carcinoma to SDSC reported worse prognosis for SDSC and increased risk for locoregional recurrence in the latter cohort.

Conclusions: SDSC represents a highly aggressive tumor presenting at advanced stage with propensity of metastasis. More research is necessary to determine the optimal treatment modality and management.

Keywords: Endoscopic skull base surgery; SMARCB1; Sinonasal carcinoma; Systematic review.

Publication types

  • Case Reports
  • Systematic Review

MeSH terms

  • Adult
  • Aged
  • Carcinoma / genetics*
  • Carcinoma / surgery
  • Female
  • Headache / etiology
  • Humans
  • Male
  • Maxillary Sinus Neoplasms / genetics*
  • Maxillary Sinus Neoplasms / surgery
  • Middle Aged
  • Neurosurgical Procedures
  • Nose Neoplasms / genetics*
  • Nose Neoplasms / surgery
  • SMARCB1 Protein / deficiency
  • SMARCB1 Protein / genetics*
  • Young Adult

Substances

  • SMARCB1 Protein
  • SMARCB1 protein, human

Supplementary concepts

  • Sinonasal undifferentiated carcinoma