Background
Merkel Cell Carcinoma (MCC) is a rare but aggressive skin malignancy associated with Merkel cell polyoma virus (MCPyV) infection and UV-carcinogenesis. MCC tumours can elicit a strong T cell response and approximately 50% of MCC patients benefit from anti-PD1/PD-L1 immune checkpoint therapy. Past research has focussed on characterising canonical ab T cell populations (CD4+ and CD8+) in MCC. Non-conventional T cells, including gamma-delta (gd) T cells, have not been reported in MCC.
Methods & Results
Multiplex-IHC was performed on 53 tumours from 35 patients targeting CD3, CD4, CD8, FOXP3, PD-L1 and synaptophysin to stain tumour cells. Predominant (>50%) infiltration of either CD4+ or CD8+ T cells was observed in most tumours; however, 8/53 (15%) had predominant CD4-CD8- double negative (DN) T cell infiltrates, while 24/53 (45%) tumours had >20% DN T cells. No statistically significant associations were observed between T cell subsets and MCPyV-status. Flow cytometry showed that most MCC infiltrating DN T cells were gd T cells, they expressed high levels of immune checkpoint molecules PD-1 and LAG-3, consistent with immune suppression, and co-expressed CD69 and CD103, consistent with a tissue resident phenotype. T cell receptor (TCR) repertoire analysis in one patient indicated a predominance of clonally expanded Vd1 T cells, consistent with antigen-driven expansion. scRNA-seq identified a transcriptional profile of gdT cells, which was used in conjunction with Gene Set Variance Analysis (GSVA) to predict gd T cell enrichment in bulk RNA-seq tumour data. gd T cell GSVA scores were positively correlated with DN-T cells measured by m-IHC in matching tumour samples. GSVA analysis in an independent MCC cohort treated with anti-PD1/PD-L1 showed high gd T cell enrichment scores in four patients of which three had a complete response.
Conclusion
gd T cells are abundant in some MCC. These cells express cell surface PD1 and are likely targets of immunotherapy. Further validation of our gd T cell gene-expression signature in MCC and other cancer types is underway.