High Grade Myoepithelial  Carcinoma of Maxillary Sinus with Extensive Rhabdoid Differentiation and INI-1 Loss: Expanding the Histopathological Spectrum of Sinonasal Carcinoma

Pasricha, Sunil; Kamboj, Meenakshi; Jajodia, Ankush; Aggarwal, Mudit; Gupta, Gurudutt; Sharma, Abhimanyu; Durga, Garima; Mehta, Anurag

doi:10.1007/s12105-021-01397-3

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…Its distinction from other epithelial and mesenchymal basaloid neoplasms is based on combined sets of clinicopathological and genotypic features (Table 1). Rare myoepithelial carcinomas with rhabdoid features may display SMARCB1 loss and, when presenting in the sinonasal tact, may mimic SMARCB1-deficient sinonasal carcinomas [16]. The latter however do not express myoepithelial markers such as S100, SOX10, calponin, smooth muscle actin and others.…”

Section: Differential Diagnosismentioning

confidence: 99%

Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: SWI/SNF-deficient Sinonasal Neoplasms: An Overview

Agaimy

2022

Head and Neck Pathol

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The pathology of poorly differentiated sinonasal malignancies has been the subject of extensive studies during the last decade, which resulted into significant developments in the definitions and histo-/pathogenetic classification of several entities included in the historical spectrum of “sinonasal undifferentiated carcinomas (SNUC)” and poorly differentiated unclassified carcinomas. In particular, genetic defects leading to inactivation of different protein subunits in the SWI/SNF chromatin remodeling complex have continuously emerged as the major (frequently the only) genetic player driving different types of sinonasal carcinomas. The latter display distinctive demographic, phenotypic and genotypic characteristics. To date, four different SWI/SNF-driven sinonasal tumor types have been recognized: SMARCB1(INI1)-deficient carcinoma (showing frequently non-descript basaloid, and less frequently eosinophilic, oncocytoid or rhabdoid undifferentiated morphology), SMARCB1-deficient adenocarcinomas (showing variable gland formation or yolk sac-like morphology), SMARCA4-deficient carcinoma (lacking any differentiation markers and variably overlapping with large cell neuroendocrine carcinoma and SNUC), and lastly, SMARCA4-deficient sinonasal teratocarcinosarcoma. These different tumor types display highly variable immunophenotypes with SMARCB1-deficient carcinomas showing variable squamous immunophenotype, while their SMARCA4-related counterparts lack such features altogether. While sharing same genetic defect, convincing evidence is still lacking that SMARCA4-deficient carcinoma and SMARCA4-deficient teratocracinosarcoma might belong to the spectrum of same entity. Available molecular studies revealed no additional drivers in these entities, confirming the central role of SWI/SNF deficiency as the sole driver genetic event in these aggressive malignancies. Notably, all studied cases lacked oncogenic IDH2 mutations characteristic of genuine SNUC. Identification and precise classification of these entities and separating them from SNUC, NUT carcinoma and other poorly differentiated neoplasms of epithelial melanocytic, hematolymphoid or mesenchymal origin is mandatory for appropriate prognostication and tailored therapies. Moreover, drugs targeting the SWI/SNF vulnerabilities are emerging in clinical trials.

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Section: Differential Diagnosismentioning

confidence: 99%

Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: SWI/SNF-deficient Sinonasal Neoplasms: An Overview

Agaimy

2022

Head and Neck Pathol

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“…Historically, most cases have been included in the spectrum of SNUC or were named basaloid nonkeratinizing SCC and myoepithelial carcinoma. Rare myoepithelial carcinomas showing rhabdoid cell features may display SMARCB1 loss as well, mimicking SMARCB1-deficient sinonasal carcinoma 18. However, myoepithelial markers (S100, SOX10, calponin, and smooth muscle actin) are usually absent in SMARCB1-deficient sinonasal carcinoma 11.…”

Section: Smarcb1-deficient Sinonasal Carcinomasmentioning

confidence: 99%

“…Rare myoepithelial carcinomas showing rhabdoid cell features may display SMARCB1 loss as well, mimicking SMARCB1-deficient sinonasal carcinoma. 18 However, myoepithelial markers (S100, SOX10, calponin, and smooth muscle actin) are usually absent in SMARCB1-deficient sinonasal carcinoma. 11 Block-type expression of p16 is uncommon in SMARCB1-deficient sinonasal carcinoma and should suggest positivity of HPV-associated basaloid SCC.…”

Section: Differential Diagnosismentioning

confidence: 99%

SWI/SNF-deficient Sinonasal Carcinomas

Agaimy

2022

Advances in Anatomic Pathology

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The classification of poorly differentiated sinonasal carcinomas and their nonepithelial mimics has experienced tremendous developments during the last 2 decades. These recent developments paved the way for an increasingly adopted approach to a molecularbased or etiology-based refined classification of the many carcinoma variants that have been historically lumped into the sinonasal undifferentiated carcinoma category. Among these new achievements, recognition of carcinoma subtypes driven by defects in the Switch/Sucrose nonfermentable (SWI/SNF) chromatin remodeling complex represents a major highlight. This resulted in a new definition of 4 sinonasal entities driven solely or predominantly by Switch/Sucrose nonfermentable complex deficiency: (1) SMARCB1 (INI1)-deficient sinonasal carcinoma (lacking gland formation and frequently displaying a non-descript basaloid, and less frequently eosinophilic/oncocytoid morphology, but no features of other definable subtypes), (2) SMARCB1-deficient sinonasal adenocarcinoma (with unequivocal glands or yolk sac-like pattern), (3) SMARCA4-deficient undifferentiated (sinonasal undifferentiated carcinoma-like) carcinoma (lacking glandular or squamous immunophenotypes), and (4) SMARCA4-deficient subset (~80%) of sinonasal teratocarcinosarcoma. Fortunately, diagnostic loss of all these proteins can be detected by routine immunohistochemistry, so that genetic testing is not mandatory in routine practice. This review summarizes the main demographic, clinicopathological, and molecular features of these new entities.

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Top 10 Basaloid Neoplasms of the Sinonasal Tract

Baněčková

Cox

2023

Head and Neck Pathol

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High Grade Myoepithelial Carcinoma of Maxillary Sinus with Extensive Rhabdoid Differentiation and INI-1 Loss: Expanding the Histopathological Spectrum of Sinonasal Carcinoma

Cited by 4 publications

References 9 publications

Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: SWI/SNF-deficient Sinonasal Neoplasms: An Overview

Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: SWI/SNF-deficient Sinonasal Neoplasms: An Overview

SWI/SNF-deficient Sinonasal Carcinomas

Top 10 Basaloid Neoplasms of the Sinonasal Tract

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