Abstract SMARCB1-deficient sinonasal carcinoma is a rare and aggressive variant of sinonasal carcinoma characterized by loss of function of the SMARCB1 tumor suppressor gene which is involved in regulating gene expression and chromatin remodeling. These patients usually have advanced-stage at presentation, aggressive clinical behavior, and high rates of local recurrence and distant metastases. Histologically, these tumors being an undifferentiated or poorly differentiated morphology with high mitotic activity, exhibited an unusual morphology and posed a diagnostic challenge given the wide spectrum of sinonasal tumors described in the literature. We describe a case of a 30-year-old female who presented with a frontoethmoidal lesion and associated bony erosions. The patient underwent frontal sinus exploration with mucocele removal, followed by received radiotherapy and chemotherapy after histopathologic confirmation of malignancy. The patient developed an early recurrence of the disease at 11 months of completion of treatment. Keeping in mind with the recent advances and newer entities of sinonasal malignancies, supplemented with a thorough immunohistochemistry work-up, we arrive at the correct diagnosis. Multidisciplinary approaches with surgery, radiation therapy, and chemotherapy may be employed in an attempt to control the disease.
Iyer et al. (2025) studied this question.