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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Hindawi Limited,
2022-01-01T00:00:00Z.
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LEADER | 00000 am a22000003u 4500 | ||
---|---|---|---|
001 | doaj_f95bf32c57d345a3b6a78812b06834c9 | ||
042 | |a dc | ||
100 | 1 | 0 | |a Anwaar M. Alsayed |e author |
700 | 1 | 0 | |a Eman A. Aljufairi |e author |
700 | 1 | 0 | |a Amjad O. Alshammari |e author |
700 | 1 | 0 | |a Khalid A. Alsindi |e author |
700 | 1 | 0 | |a Omar A. Sabra |e author |
245 | 0 | 0 | |a INI-1-Deficient Sinonasal Carcinoma: Case Report with Emphasis on Differential Diagnosis |
260 | |b Hindawi Limited, |c 2022-01-01T00:00:00Z. | ||
500 | |a 2090-679X | ||
500 | |a 10.1155/2022/5629984 | ||
520 | |a 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. | ||
546 | |a EN | ||
690 | |a Pathology | ||
690 | |a RB1-214 | ||
655 | 7 | |a article |2 local | |
786 | 0 | |n Case Reports in Pathology, Vol 2022 (2022) | |
787 | 0 | |n http://dx.doi.org/10.1155/2022/5629984 | |
787 | 0 | |n https://doaj.org/toc/2090-679X | |
856 | 4 | 1 | |u https://doaj.org/article/f95bf32c57d345a3b6a78812b06834c9 |z Connect to this object online. |