Overview

Location [1]
4q12
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Platelet-derived growth factor receptor alpha
Synonyms [1]
PDGFR-2, CD140A, PDGFR2

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. For example, mutations are found in gastrointestinal stromal tumors (GIST; PMID: 15928335PMID: 12522257), and fusions in hypereosinophilic syndrome (PMID: 12660384) and dermatofibrosarcoma protuberans (PMID: 8988177).

PDGFRA is altered in 2.80% of all cancers with non-small cell lung carcinoma, malignant glioma, melanoma, colorectal adenocarcinoma, and breast carcinoma having the greatest prevalence of alterations [3].

PDGFRA GENIE Cases - Top Diseases

The most common alterations in PDGFRA are PDGFRA Mutation (3.01%), PDGFRA Mutation (somatic) (3.01%), PDGFRA Amplification (0.69%), PDGFRA Nonsense (0.17%), and PDGFRA Codon 842 Missense (0.11%) [3].

PDGFRA GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PDGFRA in Diseases

Gastrointestinal Stromal Tumor +

Chronic Myelomonocytic Leukemia +

Myelodysplastic/Myeloproliferative Neoplasm +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Cancer +

Non-Hodgkin Lymphoma +

Head And Neck Squamous Cell Carcinoma +

Multiple Myeloma +

Glioblastoma +

Squamous Cell Lung Carcinoma +

Endometrial Carcinoma +

Small Cell Lung Carcinoma +

Glioma +

Pancreatic Carcinoma +

Diffuse Intrinsic Pontine Glioma +

Ovarian Carcinoma +

Melanoma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Malignant Salivary Gland Neoplasm +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Nasopharyngeal Carcinoma +

Thyroid Gland Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Colorectal Carcinoma +

Lymphoma +

Gastric Carcinoma +

Gastric Adenocarcinoma +

Prostate Carcinoma +

Renal Cell Carcinoma +

Esophageal Carcinoma +

Hepatocellular Carcinoma +

Cholangiocarcinoma +

B-Cell Acute Lymphoblastic Leukemia +

B-Cell Non-Hodgkin Lymphoma +

Hepatobiliary Neoplasm +

Lip And Oral Cavity Carcinoma +

Malignant Laryngeal Neoplasm +

Oropharyngeal Carcinoma +

Peritoneal Mesothelioma +

Thymic Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.