Mutations in the PDGFRA gene are associated with gastrointestinal stromal tumors (GISTs). GISTs are a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine.

The most common PDGFRA mutations found in GIST tumors occur in exon 18 and are thought to stabilize PDGFRA's tyrosine kinase in an activated conformation. A single mutation, D842V, in this exon accounts for >70% of GIST tumors.

Platelet-derived growth factor receptor A (PDGFRA) mutations occur in approximately 10–15% of gastrointestinal stromal tumors (GISTs). These tumors with PDGFRA mutations have a different pathogenesis, clinical characteristics, and treatment response ...

Gain-of-function mutations lead to constitutive, ligand independent activation of PDGFRA and its downstream pathways, ultimately increasing cell proliferation and inhibiting apoptosis [1].

PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in gastrointestinal stromal tumors (GISTs), inflammatory fibroid polyps and gliomas, and PDGFRB mutations drive myofibroma development.

PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) encodes the platelet-derived growth factor receptor alpha protein. PDGFRA mutations lead to kinase activation. Mutant PDGFRA has been implicated in the pathogenesis of a number of cancers.

PDGFRA mutations are associated with recurrence and metastasis in gastrointestinal stromal tumors. Pdgfralpha expression is important in the fibrotic response to liver injury; SNPs could be detected in exon 12 of the PDGFR-alpha gene in thyroid carcinoma showing thymus-like …

PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in gastrointestinal stromal tumors (GISTs), inflammatory fibroid polyps and gliomas, and PDGFRB mutations drive myofibroma development …

2013年6月10日 · We characterized 10 novel somatic point mutations in PDGFRA that have been reported in isolated cases of glioblastoma, melanoma, acute myeloid leukemia, peripheral nerve sheath tumors and...

2024年12月25日 · Mutations in the 842 region of PDGFRA have been often found to confer resistance to the tyrosine kinase inhibitor, imatinib. PDGFRA (Platelet Derived Growth Factor Receptor Alpha) is a Protein Coding gene. Diseases associated with PDGFRA include Gist-Plus Syndrome and Gastrointestinal Stromal Tumor.