Fig. 1

Single-Nuclei RNA-sequencing reveals full characterization of cellular subpopulations harbored by plexiform neurofibromas. a Harmony UMAP projection of single-nuclei expression data of 8 PN patient samples on 26,734 nuclei reveals a complex cellular microenvironment with a multitude of infiltrating cell types. b snRNA-seq subpopulations were annotated according to cell type deconvolution using Jaccard index analysis which calculates marker gene overlap (displayed as heatmap) with previously published benign cutaneous fibroma scRNA-seq and normal sciatic nerve atlas subpopulation markers. c Sample projection overlaid onto harmony UMAP shows most cellular subpopulations shared by all patient samples despite being resected from a variety of anatomical locations. Sample proportions of tumors used to generate UMAP data listed in key. d Subgroup proportions suggest a fibroblast rich cellular microenvironment with a strong immune and Schwann cell component. Endo_fibr, Endoneurial fibroblast; Epi_fibr, Epineurial fibroblast; LEC, Lymphatic endothelial cells; Mye_Sc, Myelinated Schwann cell; NM-SC_1 and 2, Non-myelinated Schwann cells 1 and 2; Peri_fibr, Perineurial fibroblast; Prolif_1, Proliferative 1; Vasc_endo_1 and 2; Vascular endothelial 1 and 2