SMARCB1 (INI1)-deficient sinonasal carcinoma manifesting as oral lesions: A report of two cases

Head Neck. 2024 Mar;46(3):E32-E39. doi: 10.1002/hed.27595. Epub 2023 Dec 13.

Abstract

Background: Sinonasal carcinomas represent a rare group of malignancies, accounting for less than 5% of all head and neck cancers and a worldwide incidence of less than 1 case per 100 000 inhabitants annually. Despite the restricted anatomical location, sinonasal carcinomas harbor some of the most histologically and molecularly diverse groups of tumors. SMARCB1 (INI1)-deficient sinonasal carcinomas are locally aggressive tumors commonly detected late, leading to devastating morbidity and mortality.

Case report: We present two cases of SMARCB1-deficient sinonasal carcinoma involving the oral cavity and presenting as progressive radiolucent lesions with local swelling associated with maxillary dentition and alveolar bone. Both cases were initially considered odontogenic in origin and involved the destruction of the left anterior maxilla.

Conclusion: Given the rarity and the variable presentation of these tumors, they pose a challenge for head and neck surgeons, dentists, and pathologists due to the potential overlapping features with odontogenic and non-odontogenic inflammatory and neoplastic lesions. These cases highlight the importance of a multidisciplinary team and include SMARCB1-deficient sinonasal carcinomas in the differential diagnosis of destructive lesions of the maxilla.

Keywords: SMARCB1; cancer; carcinoma; oral; periapical; sinonasal.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers, Tumor
  • Carcinoma* / genetics
  • Carcinoma* / pathology
  • Humans
  • Nose Neoplasms* / genetics
  • Nose Neoplasms* / pathology
  • Paranasal Sinus Neoplasms* / diagnostic imaging
  • Paranasal Sinus Neoplasms* / genetics
  • Paranasal Sinus Neoplasms* / surgery
  • SMARCB1 Protein / genetics

Substances

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