PDGFRB是致癌基因，编码蛋白（血小板衍生的生长因子受体β）是跨膜受体-酪氨酸激酶，其配体是同型二聚体PDGF-BB和PDGF-DD。在与PDGF配体结合后，受体通过同二聚化（或与PDGFRα的异二聚化）使细胞内激酶结构域接近并触发激酶活化，下游信号传导途径包括JAK / STAT，PI3K / AKT，MAPK / ERK，PLCγ和NF-κB。PDGFRB主要在间充质来源的细胞（例如成纤维细胞，内皮细胞）上表达，并参与器官发育，血管生成和伤口修复。PDGFRB在早期造血中起作用，PDGFRB在造血细胞中的病理性过表达有助于肿瘤生长和进展。尽管PDGF / PDGFR信号传导似乎在多种类型的实体瘤中发挥重要作用，但PDGFRB的突变（扩增或易位/融合）在大多数实体瘤中发生频率相当罕见。

PDGFRB, a receptor tyrosine kinase, is infrequently mutated in solid tumors. PDGFRB (platelet-derived growth factor receptor beta), is a transmembrane receptor-tyrosine kinase whose ligands are the homodimers PDGF-BB and PDGF-DD. Upon binding to PDGF ligand, the receptor undergoes homodimerization (or heterodimerization with PDGFRα), bringing the intracellular kinase domains into proximity and triggering kinase activation. Downstream signaling pathways include JAK/STAT, PI3K/AKT, MAPK/ERK, PLCγ, and NF-κB. PDGFRB is primarily expressed on cells of mesenchymal origin (e.g. fibroblasts, endothelium) and is involved in organ development, angiogenesis and wound repair. Although PDGFRB plays a role in early hematopoiesis, its role in adult hematopoietic cells is less clear. Pathologic overexpression of PDGFRB in hematopoietic cells contributes to neoplastic growth and progression. Although PDGF/PDGFR signaling appears to play an important role in numerous types of solid tumors, mutations, amplifications or translocations/fusions of PDGFRB are relatively rare in most solid tumors.

GeneCards OncoKB My Cancer Genome