Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

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

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 2.44% of all cancers with lung adenocarcinoma, conventional glioblastoma multiforme, colon adenocarcinoma, cutaneous melanoma, and gastrointestinal stromal tumor having the greatest prevalence of alterations [3].

PDGFRA GENIE Cases - Top Diseases

The most common alterations in PDGFRA are PDGFRA Mutation (3.01%), PDGFRA Amplification (0.69%), PDGFRA Exon 18 Mutation (0.31%), PDGFRA Exon 12 Mutation (0.27%), and PDGFRA Nonsense (0.17%) [3].

PDGFRA GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PDGFRA in Diseases

Gastrointestinal Stromal Tumor +

Myelodysplastic/Myeloproliferative Neoplasm +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Melanoma +

Colorectal Carcinoma +

Cancer +

Head And Neck Squamous Cell Carcinoma +

Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Carcinoma +

Glioblastoma +

Malignant Glioma +

Squamous Cell Lung Carcinoma +

Urothelial Carcinoma +

Ovarian Carcinoma +

Gastric Adenocarcinoma +

Renal Cell Carcinoma +

Myeloid Neoplasm +

Acute Myeloid Leukemia +

Adenocarcinoma Of The Gastroesophageal Junction +

Aggressive Systemic Mastocytosis +

Esophageal Carcinoma +

Hepatocellular Carcinoma +

Mast Cell Leukemia +

Multiple Myeloma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Osteosarcoma +

Glioma +

Lung Carcinoma +

Endometrial Carcinoma +

Bladder Carcinoma +

Malignant Uterine Neoplasm +

Malignant Salivary Gland Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Soft Tissue Sarcoma +

Lymphoma +

Malignant Germ Cell Tumor +

Gastric Carcinoma +

Thyroid Gland Carcinoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Leukemia +

Prostate Carcinoma +

Acute Lymphoblastic Leukemia +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Cholangiocarcinoma +

Chondrosarcoma +

Chronic Myeloid Leukemia +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Diffuse Intrinsic Pontine Glioma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Lip And Oral Cavity Carcinoma +

Liposarcoma +

Malignant Laryngeal Neoplasm +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic Syndromes +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Oropharyngeal Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Pecoma +

Penile Carcinoma +

Peritoneal Mesothelioma +

Systemic Mastocytosis +

Thymic Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

WHO Grade II Glioma +

WHO Grade III Glioma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 6. 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.