Genomics and PDL1 Expression in a Small Base of the Skull Complex Pathology Series

Introduction: Integrated treatment management approach of complex skull base pathologies requires high-level subspecialty care. Routine genomic and PDL1 immunohistochemistry analysis done for treatment planning purposes has been reviewed to see if these pathologies, given their location, share common genomic features and/or suggest involvement of similar signaling pathways or identify immunotherapy candidates.

Methods: A retrospective case series review of all complex sinonasal lesions of different pathologies that underwent a combined surgical, chemotherapeutic, and biologic treatment and had routine genomic analysis and PDL1 expression analysis was conducted over the last 10 months. Genomics features and their potential signaling implications were compiled and discussed.

Results: Four patients presenting each with a different tumor type (i.e., adenoid cystic carcinoma, basal cell carcinoma, sinonasal undifferentiated carcinoma, and meningiomatosis). Carcinomas in our series each displayed (multiple) mutations impacting transcriptional regulation, chromatin remodeling, differentiation and cell fate pathway regulation. The basal cell carcinoma patient had a high tumor mutational burden (28 m/MB) and the sinonasal undifferentiated carcinoma had a high PDL1 expression (50%), underscoring the role of immunotherapy in base of the skull lesions. The meningioma patient had a classical NF2 meningioma genotype.

Conclusion: This very limited case series underscores the complexity of the genomic changes in the skull base pathologies and the rapid recognition of the role of immunotherapy in the base of the skull pathology. More research is necessary with a larger case volume to assess this further.

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Artikel online veröffentlicht:
05. Februar 2024