Multi-omics sequencing reveals the signature of the genome, cell composition and transcriptome of nodal RDD [ST]

RDD is a poorly understood disease with low incidence. Here, we performed whole genome sequencing, single cell RNA-seq and spatial transcriptome sequencing of a nodal RDD, describing its cell composition, spatial arrangement and molecular characteristics from a multi-omics perspective. By integrating single cell RNA-seq data, we found that compared with lymph node and LCH, RDD harbors completely different cell composition and molecular feature. Compared with lymph node, a subset of ion-responded macrophage appeared in RDD. Compared with LCH, macrophages in RDD are enriched for RHO GTPase pathway. And RHO GTPase high macrophages have unique cell-cell interactions and are the most actively proliferating cells in RDD. Our results provide a valuable insight for understanding the molecular basis of nodal RDD. Spatial transcriptomics profiles of human Rosai-Dorfman disease (n=1)