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Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas

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SMARCA4-deficient Sinonasal Carcinoma.

Abbas Agaimy¹, Wilko Weichert^2,3,4

¹Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital Erlangen, Erlangen, Germany. abbas.agaimy@uk-erlangen.de.

Head and Neck Pathology

|February 9, 2017

Summary

Sinonasal undifferentiated carcinoma (SNUC) is aggressive. A rare case revealed SMARCA4-deficiency, highlighting the need to test SWI/SNF subunits beyond SMARCB1 in sinonasal cancers.

Keywords:

NUT midline carcinoma SMARCA4 SMARCB1-deficient carcinoma SNUC Sinonasal tract Small round cell tumor

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Area of Science:

Oncology
Pathology
Genetics

Background:

Sinonasal undifferentiated carcinoma (SNUC) is an aggressive epithelial neoplasm.
Recent research has redefined SNUC, identifying specific genetic aberrations in entities like sinonasal NUT-midline carcinoma and SMARCB1(INI1)-deficient sinonasal carcinoma.
The role of SWItch/Sucrose Non-fermentable (SWI/SNF) chromatin remodeling complex subunits, beyond SMARCB1, in SNUC pathogenesis remains largely unexplored.

Observation:

A 40-year-old woman presented with a large, infiltrative sinonasal mass extending to the skull base and periorbital tissue.
Initial biopsies were diagnosed as poorly differentiated neuroendocrine carcinoma, but subsequent histological evaluation revealed a small round blue cell neoplasm.
Immunohistochemistry showed diffuse pancytokeratin expression, but lacked reactivity for high molecular weight cytokeratins, CK7, p63, S100, desmin, and NUT. Neuroendocrine markers showed limited reactivity.

Findings:

Genetic analysis revealed intact SMARCB1, SMARCA2, and ARID1A, but complete loss of SMARCA4 in the tumor cells.
This finding indicates SMARCA4-deficiency as a potential driver in a subset of poorly differentiated sinonasal carcinomas.
The patient was treated with surgery and radiochemotherapy and was alive with disease at 9 months follow-up.

Implications:

This case underscores the importance of evaluating other SWI/SNF complex subunits, particularly SMARCA4, in sinonasal malignancies.
Accurate diagnosis of SNUC subtypes is crucial for targeted therapy and improved patient outcomes.
Further research into SWI/SNF complex alterations in sinonasal cancers may reveal new diagnostic and therapeutic strategies.