Sinonasal SMARCB1 (INI1) Deficient Carcinoma with Yolk Sac Tumor Differentiation: A Case Report and Treatment Options

Head Neck Pathol. 2022 Jun;16(2):596-601. doi: 10.1007/s12105-021-01375-9. Epub 2021 Aug 21.

Abstract

SMARCB1 (INI1) deficient carcinoma (SDC) is a newly-described, aggressive, high-grade malignancy of the adult population. Rarely, these tumors demonstrate yolk sac differentiation. Treatment protocols are not defined due to the rarity of this entity. A 55 year-old-male presented with a tumor originating in the maxillary sinus. He was treated with neoadjuvant therapy followed by radical surgery and adjuvant treatment. We review the literature and discuss the course of disease and treatments of sinonasal SDC with yolk sac tumor differentiation. To our knowledge, this is the sixth reported case of sinonasal SDC with yolk sac tumor differentiation. This is the first publication describing the clinical course and efficacy of therapeutic interventions.

Keywords: INI-1 deficient; Paranasal sinus malignancies; SMARCB1; Sinonasal malignancies; Yolk sac tumor.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Biomarkers, Tumor
  • Carcinoma* / pathology
  • Endodermal Sinus Tumor* / therapy
  • Humans
  • Male
  • Middle Aged
  • SMARCB1 Protein / genetics

Substances

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