# A Case of SMARCB1-Deficient Sinonasal Carcinoma With Clear Cell Morphology

## TL;DR

This paper reports a rare case of a SMARCB1-deficient sinonasal carcinoma with clear cell features, emphasizing the need for accurate diagnosis and molecular testing.

## Contribution

The novelty lies in presenting a case lacking typical histopathological features of SMARCB1-deficient tumors.

## Key findings

- The case lacks basaloid or plasmacytoid/rhabdoid tumor cells, which are typically seen in SMARCB1-deficient tumors.
- Early and accurate diagnosis is crucial due to the poor prognosis of this carcinoma subtype.

## Abstract

SMARCB1 is a gene known to cause carcinogenesis in many soft tissue tumors, including malignant rhabdoid tumors and epithelioid sarcoma. Since the first report of a subtype of sinonasal carcinoma characterized by a deficiency of the SMARCB1 gene in 2014 to date, fewer than 200 cases have been reported. We report a case of SMARCB1-deficient sinonasal carcinoma with clear cell morphology. In our case, there are no evident basaloid or plasmacytoid/rhabdoid tumor cells, which are typical histopathological features of SMARCB1-deficient sinonasal carcinoma. SMARCB1-deficient sinonasal carcinoma is prone to recurrence and has a very poor prognosis. As the development of molecularly targeted agents progresses, therapeutic efficacy is expected to improve. Simultaneously, the importance of early and accurate diagnosis of SMARCB1-deficient sinonasal carcinoma will increase. With the limited information provided by biopsy specimens, it is necessary to confirm the loss of SMARCB1 expression by immunohistochemistry and investigate the presence of SMARCB1 gene deletion by molecular genetics, considering the possibility of SMARCB1-deficient sinonasal carcinoma even in atypical cases without basaloid or plasmacytoid/rhabdoid cell morphology, as in our case.