289 Immune cell population of cutaneous neurofibromas

Neurofibromatosis 1 (NF1) is one of the most common genodermatoses and cutaneous neurofibromas (cNFs) manifest in almost every adult with NF1. The immune microenvironment cNFs incompletely known. A total 60 from ten patients NF1 were used for immunolabeling. Tumor T-cells visualized counted based on positive reaction CD3, CD4, CD8 FoxP3. CD68 CD163 to detect macrophages. aggregation cells at tumor margin was separately assessed topmost part covered by epidermis. Nine analysed separating overlying skin tumor, isolating genomic DNA both tissues. T cell receptor (TCR) CDR domain sequenced compare profiles skin. Mass spectrometric analysis 15 performed expression inflammation-related pathways cNF. Intratumoral detected all samples, T-cell population clearly CD4-dominant. Most samples displayed CD3 area underlying density macrophages higher older (P=0.019). suggestive M2 abundant cNFs. TCR sequencing showed that populations distinct. number productive rearrangements observed (mean 1,200) significantly lower compared 5,190; P<0.001). mass spectrometry data many processes related downregulated This study gives an overview paves way detailed studies elucidate potential therapeutic targets treatment or prevention growth