RESUMO
SMARCB1-deficient sinonasal carcinoma is a newly described entity, with less than 100 reported cases. It is characterized by basaloid or rhabdoid morphology and is diagnosed by complete loss of nuclear SMARCB1 (INI-1). The morphologic appearance, specific immunophenotypic markers, and unique molecular make-up distinguish this entity from other various malignant neoplasms. We present a case of a 55-year-old male that presented with a large progressing palatine mass. Magnetic resonance imaging showed a heterogeneous mass involving the left maxillary space. The initial biopsy was diagnosed as undifferentiated carcinoma. Resection was performed, and immunohistochemical studies revealed a complete loss of INI-1, refining the diagnosis to SMARCB1-deficient sinonasal carcinoma. Diagnosis of SMARCB1-deficient sinonasal carcinoma should be considered in all undifferentiated sinonasal carcinomas. Immunohistochemistry or molecular studies are mandatory to confirm the diagnosis and exclude other morphologically similar entities.
RESUMO
INTRODUCTION AND IMPORTANCE: Schwannomas are relatively uncommon, benign, slow-growing neoplasms, which are derived from schwann cells that can arise from any cranial, peripheral, or autonomic nerves. The involvement of the palate is a rare presentation and hardly reported in the literature. CASE PRESENTATION: Here, we report the case of a 39-year-old woman with a history of a foreign body sensation in the throat and difficult swallowing. CLINICAL FINDINGS AND INVESTIGATIONS: Oral examination showed a smooth, non-tender, right-sided, soft palate mass. Computed tomography (CT) scan revealed a well-defined, non-enhancing, homogenous pedunculated soft tissue mass arising from the posterior edge of the right side of the soft palate. INTERVENTIONS AND OUTCOME: The mass was excised completely under local anesthesia in the clinical setting using a CO2 surgical laser. The mass was sent for histologic analysis, which confirmed the diagnosis of a benign schwannoma. CONCLUSION: Eventually, upon follow-up at six months post excision, no evidence of recurrence was detected.