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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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Pathology |
| Online Access: | http://dx.doi.org/10.1155/2022/5629984 |
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| author | Anwaar M. Alsayed Eman A. Aljufairi Amjad O. Alshammari Khalid A. Alsindi Omar A. Sabra |
| author_facet | Anwaar M. Alsayed Eman A. Aljufairi Amjad O. Alshammari Khalid A. Alsindi Omar A. Sabra |
| author_sort | Anwaar M. Alsayed |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f95bf32c57d345a3b6a78812b06834c9 |
| institution | Kabale University |
| issn | 2090-679X |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pathology |
| spelling | doaj-art-f95bf32c57d345a3b6a78812b06834c92025-02-03T06:01:10ZengWileyCase Reports in Pathology2090-679X2022-01-01202210.1155/2022/5629984INI-1-Deficient Sinonasal Carcinoma: Case Report with Emphasis on Differential DiagnosisAnwaar M. Alsayed0Eman A. Aljufairi1Amjad O. Alshammari2Khalid A. Alsindi3Omar A. Sabra4Department of HistopathologyDepartment of HistopathologyDepartment of HistopathologyDepartment of HistopathologyDepartment of EarSMARCB1-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.http://dx.doi.org/10.1155/2022/5629984 |
| spellingShingle | Anwaar M. Alsayed Eman A. Aljufairi Amjad O. Alshammari Khalid A. Alsindi Omar A. Sabra INI-1-Deficient Sinonasal Carcinoma: Case Report with Emphasis on Differential Diagnosis Case Reports in Pathology |
| title | INI-1-Deficient Sinonasal Carcinoma: Case Report with Emphasis on Differential Diagnosis |
| title_full | INI-1-Deficient Sinonasal Carcinoma: Case Report with Emphasis on Differential Diagnosis |
| title_fullStr | INI-1-Deficient Sinonasal Carcinoma: Case Report with Emphasis on Differential Diagnosis |
| title_full_unstemmed | INI-1-Deficient Sinonasal Carcinoma: Case Report with Emphasis on Differential Diagnosis |
| title_short | INI-1-Deficient Sinonasal Carcinoma: Case Report with Emphasis on Differential Diagnosis |
| title_sort | ini 1 deficient sinonasal carcinoma case report with emphasis on differential diagnosis |
| url | http://dx.doi.org/10.1155/2022/5629984 |
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