Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
4p16.3
Pathways
Kinase fusions, Receptor tyrosine kinase/growth factor signaling
Protein [2]
Fibroblast growth factor receptor 3
Synonyms [1]
JTK4, ACH, HSFGFR3EX, CEK2, CD333

The fibroblast growth factor receptor 3 (FGFR3) gene encodes one member of the FGF receptor tyrosine kinase family, which includes four kinases: FGFR1, FGFR2, FGFR3, and FGFR4. FGFRs are involved in downstream signaling via the MAP kinase, JAK/STAT, and PI3K/AKT pathways. FGFR3 gene aberrations have been reported in urothelial, breast, head and neck, lung, brain, gastric, pancreatic, colorectal, kidney, endometrial, ovarian, and cervical cancers and are known to be highly prevalent in bladder cancers.

FGFR3 is altered in 2.44% of all cancers with bladder urothelial carcinoma, colon adenocarcinoma, lung adenocarcinoma, infiltrating renal pelvis and ureter urothelial carcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

FGFR3 GENIE Cases - Top Diseases

The most common alterations in FGFR3 are FGFR3 Mutation (1.82%), FGFR3 S249C (0.43%), FGFR3 Amplification (0.32%), FGFR3 Fusion (0.27%), and FGFR3-TACC3 Fusion (0.21%) [3].

FGFR3 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of FGFR3 in Diseases

Urothelial Carcinoma +

Bladder Carcinoma +

Multiple Myeloma +

Malignant Solid Tumor +

Acute Lymphoblastic Leukemia +

Plasma Cell Leukemia +

Breast Carcinoma +

Acute Myeloid Leukemia +

Cholangiocarcinoma +

Non-Small Cell Lung Carcinoma +

Myelodysplastic Syndromes +

Cancer +

Non-Hodgkin Lymphoma +

B-Cell Acute Lymphoblastic Leukemia +

Chronic Lymphocytic Leukemia +

Chronic Myeloid Leukemia +

Smoldering Plasma Cell Myeloma +

Transitional Cell Carcinoma +

Endometrial Carcinoma +

Squamous Cell Lung Carcinoma +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Chronic Myelomonocytic Leukemia +

Bladder Urothelial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Colorectal Carcinoma +

Gastric Adenocarcinoma +

Sarcoma +

Lymphoma +

Hodgkin Lymphoma +

Lymphoblastic Lymphoma +

Mixed Phenotype Acute Leukemia +

Myeloproliferative Neoplasm +

Non-Muscle Invasive Bladder Carcinoma +

Infiltrating Renal Pelvis And Ureter Urothelial Carcinoma +

Urethral Urothelial Carcinoma +

Pilomyxoid Astrocytoma +

Anaplastic Oligodendroglioma +

Oropharyngeal Squamous Cell Carcinoma +

Melanoma +

Oral Cavity Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Malignant Uterine Neoplasm +

Small Cell Lung Carcinoma +

Anaplastic Astrocytoma +

Extrahepatic Cholangiocarcinoma +

Glioblastoma +

Head And Neck Carcinoma +

Malignant Glioma +

Myeloma +

Astrocytic Tumor +

Diffuse Glioma +

Glioma +

Gallbladder Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Bile Duct Carcinoma +

Low Grade Glioma +

Ganglioglioma +

Ovarian Carcinoma +

Lung Carcinoma +

Intrahepatic Cholangiocarcinoma +

Cervical Carcinoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Soft Tissue Sarcoma +

Diffuse Large B-Cell Lymphoma +

Invasive Breast Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Pancreatic Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Esophageal Squamous Cell Carcinoma +

Lymphocytic Neoplasm +

Pilocytic Astrocytoma +

Neuronal And Mixed Neuronal-Glial Tumors +

Mantle Cell Lymphoma +

Gastrointestinal Stromal Tumor +

Myeloid Neoplasm +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Aplastic Anemia +

B-Cell Lymphoblastic Lymphoma +

Bronchogenic Carcinoma +

Double-Hit Lymphoma +

Dysembryoplastic Neuroepithelial Tumor +

Gangliocytoma +

Hypopharyngeal Squamous Cell Carcinoma +

Low-Grade Neuroepithelial Tumor, NOS +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Myelodysplastic/Myeloproliferative Neoplasm +

Myelofibrosis +

Plasmacytoma +

Prolymphocytic Leukemia +

Renal Pelvis Urothelial Carcinoma +

Secondary Acute Myeloid Leukemia +

Small Lymphocytic Lymphoma +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Lymphoma +

T-Cell Prolymphocytic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Triple-Hit Lymphoma +

Ureter Urothelial Carcinoma +

Waldenstrom Macroglobulinemia +

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.