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PDGFRA gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PDGFRA gene

The PDGFRA gene encodes a receptor protein that regulates cell growth and survival, with mutations often leading to specific types of blood cancers and tumors.

Normal Function

The PDGFRA gene provides instructions for making a protein called platelet-derived growth factor receptor alpha (PDGFRA), which is part of a family of proteins called receptor tyrosine kinases (RTKs). These proteins transmit signals from the cell surface into the cell through signal transduction.

When a specific protein, platelet-derived growth factor, attaches to the PDGFRA protein, it activates the receptor. This activation triggers a series of proteins inside the cell through a process called phosphorylation. These signaling pathways control critical cellular processes, including cell growth, division (proliferation), and survival, which are essential for the development of many cell types throughout the body.

Health Conditions Related to Genetic Changes

PDGFRA-associated chronic eosinophilic leukemia

Genetic abnormalities involving the PDGFRA gene can cause a type of blood cell cancer characterized by an increased number of eosinophils (a type of white blood cell). These are somatic mutations acquired during a person's lifetime.

  • FIP1L1-PDGFRA Fusion: The most common abnormality is a deletion on chromosome 4 that fuses the FIP1L1 and PDGFRA genes.
  • Constitutive Activation: The resulting fusion protein does not require the binding of platelet-derived growth factor to be activated. The signaling pathways remain constantly turned on, leading to poorly controlled growth of eosinophils.

Gastrointestinal stromal tumor

Mutations in the PDGFRA gene are associated with gastrointestinal stromal tumors (GISTs), which occur most commonly in the stomach or small intestine. While most cases are caused by somatic mutations present only in tumor cells, some mutations are inherited, leading to familial GISTs. These mutations result in a constitutively active PDGFRA protein, increasing cell proliferation and survival.

Other disorders

Constitutively active PDGFRA protein is also associated with inflammatory fibroid polyps, which are small, noncancerous (benign) tumors that form in the gastrointestinal tract.

Other Names for This Gene

  • CD140 antigen-like family member A
  • CD140A
  • CD140a antigen
  • GAS9
  • PDGFR-alpha
  • PDGFR2
  • PGFRA_HUMAN
  • platelet-derived growth factor receptor 2
  • platelet-derived growth factor receptor alpha
  • platelet-derived growth factor receptor, alpha polypeptide

Frequently Asked Questions

Not always. Asymptomatic patients with low‑level PDGFRA‑positive eosinophilia can be monitored, but most clinicians start low‑dose imatinib (100 mg daily) because the drug rapidly normalizes eosinophil counts and prevents organ damage (e.g., heart, lung, or neurologic complications). Treatment decisions depend on symptom burden, organ involvement, and eosinophil level.
The standard approach is a quantitative PCR or a targeted next‑generation sequencing assay on peripheral blood or bone‑marrow DNA that specifically screens for the FIP1L1‑PDGFRA rearrangement. Cytogenetics (karyotype) may miss this cryptic deletion, so molecular testing is essential when eosinophilia is >1.5 × 10⁹/L and no other cause is identified.
The D842V substitution is resistant to imatinib and several other first‑line TKIs. Approved options include avapritinib or ripretinib, which have activity against this specific mutation. Discuss enrollment in a clinical trial if available, as newer agents are being studied for PDGFRA‑mutant GISTs.
small subset of GISTs are caused by germline PDGFRA mutations and can run in families. If multiple relatives have GISTs, especially at a young age, or if you have a known pathogenic germline variant, genetic counseling and testing are recommended. Sporadic, somatic PDGFRA mutations (the majority) are not inherited and do not require family screening.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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