Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
5q32
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Platelet-derived growth factor receptor beta
Synonyms [1]
PENTT, IMF1, PDGFR-1, KOGS, IBGC4, PDGFR1, JTK12, CD140B, PDGFR

Platelet-derived growth factor receptor, beta polypeptide (PDGFRB) is a gene that encodes a protein that is a tyrosine kinase receptor for proteins in the platelet-derived growth factor family. Fusions, rearrangements, missense, nonsense, and silent mutations are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

PDGFRB is altered in 2.21% of all cancers with lung adenocarcinoma, colon adenocarcinoma, cutaneous melanoma, breast invasive ductal carcinoma, and melanoma having the greatest prevalence of alterations [3].

PDGFRB GENIE Cases - Top Diseases

The most common alterations in PDGFRB are PDGFRB Mutation (1.98%), PDGFRB Missense (1.82%), PDGFRB Amplification (0.11%), PDGFRB Nonsense (0.09%), and PDGFRB Frameshift (0.08%) [3].

PDGFRB GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PDGFRB in Diseases

Myelodysplastic/Myeloproliferative Neoplasm +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Non-Small Cell Lung Carcinoma +

B-Cell Acute Lymphoblastic Leukemia +

Malignant Solid Tumor +

Secondary Acute Myeloid Leukemia +

Multiple Myeloma +

Myelodysplastic Syndromes +

Therapy-Related Acute Myeloid Leukemia +

Cancer +

Adenocarcinoma Of The Gastroesophageal Junction +

Breast Carcinoma +

Pancreatic Carcinoma +

Gastrointestinal Stromal Tumor +

Mixed Phenotype Acute Leukemia +

Melanoma +

Lung Carcinoma +

Urothelial Carcinoma +

Colorectal Carcinoma +

Malignant Uterine Neoplasm +

Bladder Carcinoma +

WHO Grade III Glioma +

Malignant Glioma +

Esophageal Carcinoma +

Nasopharyngeal Carcinoma +

Small Cell Lung Carcinoma +

Diffuse Intrinsic Pontine Glioma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Oropharyngeal Carcinoma +

WHO Grade II Glioma +

Head And Neck Carcinoma +

Ovarian Carcinoma +

Malignant Laryngeal Neoplasm +

Soft Tissue Sarcoma +

Cervical Carcinoma +

Malignant Salivary Gland Neoplasm +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Bile Duct Carcinoma +

Non-Hodgkin Lymphoma +

Acute Myeloid Leukemia With Myelodysplasia-Related Changes +

Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Acute Leukemia +

Lip And Oral Cavity Carcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

B-Cell Lymphoblastic Lymphoma +

Bronchogenic Carcinoma +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Nasal Cavity And Paranasal Sinus Carcinoma +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Lymphoma +

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 8. 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.