INI-1-Deficient Sinonasal Carcinoma: Case Report with Emphasis on Differential Diagnosis
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 molecul...
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Published in | Case reports in pathology Vol. 2022; pp. 5629984 - 5 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Hindawi
30.03.2022
Wiley |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | Academic Editor: Mirella Marino |
ISSN: | 2090-6781 2090-679X |
DOI: | 10.1155/2022/5629984 |