Signaling by PDGFR in disease

PDGFRA and PDGFRB are type III receptor tyrosine kinases that promote development and maintenance of mesenchymal tissues, including vascular smooth muscle, kidney, intestine, skin and lung, among others (reviewed in Tallquist and Kazlauskas, 2004; reviewed in Wang et al, 2016). Signaling through PDGF receptors stimulates cell proliferation and survival through activation of downstream signaling pathways including the RAS-MAP kinase cascade, PI3K signaling and STAT signaling (reviewed in Roskoski, 2018). Aberrant signaling through PDGF receptors is implicated in a number of human diseases. Point mutations in PDGFRA and, to a lesser extent, PDGFRB are implicated in a number of cancers, such as gastrointestinal stromal tumors (GIST; 5-10% mutation frequency in PDGFRA) and haematological cancers (Corless et al, 2005; Wang et al, 2016; reviewed in Klug et al, 2018). In addition, amplified signaling through the PDGF pathway can arise through gene fusion events or overexpression of ligand or receptor through gene amplification (Ozawa et al, 2010; Verhaak et al, 2010; reviewed in Appiah-Kubi et al, 2017).

Summary from Reactome (R-HSA-9671555), read 2026-09-23.