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SWI/SNF-deficient Sinonasal Carcinomas.

¹Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital, Erlangen, Germany.

Advances in Anatomic Pathology

|December 29, 2022

Summary

Recent advances refine sinonasal carcinoma classification, identifying four subtypes linked to Switch/Sucrose nonfermentable (SWI/SNF) complex deficiencies. Immunohistochemistry aids diagnosis, reducing the need for genetic testing.

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Area of Science:

Pathology
Oncology
Genetics

Background:

The classification of poorly differentiated sinonasal carcinomas has evolved significantly over the past two decades.
Recent advancements favor molecular and etiological classifications over historical groupings like sinonasal undifferentiated carcinoma.
Defects in the Switch/Sucrose nonfermentable (SWI/SNF) chromatin remodeling complex are now recognized as key drivers of specific carcinoma subtypes.

Approach:

This review summarizes demographic, clinicopathological, and molecular features of newly defined sinonasal entities.
Focuses on four sinonasal carcinoma subtypes primarily driven by SWI/SNF complex deficiency.
Highlights the diagnostic utility of routine immunohistochemistry for detecting protein loss.

Key Points:

Four sinonasal entities are now defined by SWI/SNF complex deficiency: SMARCB1(INI1)-deficient sinonasal carcinoma, SMARCB1-deficient sinonasal adenocarcinoma, SMARCA4-deficient undifferentiated carcinoma, and a subset of sinonasal teratocarcinosarcoma.
Morphological and immunophenotypical distinctions are described for each subtype.
Loss of diagnostic proteins (SMARCB1, SMARCA4) is detectable via immunohistochemistry, making genetic testing generally unnecessary.

Conclusions:

The identification of SWI/SNF complex-deficient carcinomas represents a major advancement in sinonasal tumor classification.
Immunohistochemistry is a practical diagnostic tool for these subtypes.
This refined classification aids in understanding the molecular basis and clinical behavior of these rare malignancies.