Gene Location [1]
Receptor tyrosine kinase/growth factor signaling
Variant Type

FGFR4 Fusion is present in 0.03% of AACR GENIE cases, with gastric adenocarcinoma, high grade ovarian serous adenocarcinoma, invasive breast carcinoma, lung adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence [4].

Top Disease Cases with FGFR4 Fusion

Significance of FGFR4 Fusion in Diseases

Malignant Solid Tumor +

Acute Lymphoblastic Leukemia +

Urothelial Carcinoma +

B-Cell Acute Lymphoblastic Leukemia +

Cancer +

Acute Myeloid Leukemia +

Cholangiocarcinoma +

Gastric Carcinoma +

Mixed Phenotype Acute Leukemia +

Multiple Myeloma +

Myelodysplastic Syndromes +

Glioblastoma +

Endometrial Carcinoma +

Sarcoma +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Anaplastic Astrocytoma +

Anaplastic Oligodendroglioma +

B-Cell Lymphoblastic Lymphoma +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Extrahepatic Cholangiocarcinoma +

Gastrointestinal Stromal Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Intrahepatic Cholangiocarcinoma +

Lymphoblastic Lymphoma +

Lymphocytic Neoplasm +

Mixed Phenotype Acute Leukemia, B/Myeloid, NOS +

Mixed Phenotype Acute Leukemia, T/Myeloid, NOS +

Myeloid Neoplasm +

Myeloproliferative Neoplasm +

Non-Hodgkin Lymphoma +

Non-Muscle Invasive Bladder Carcinoma +

Secondary Acute Myeloid Leukemia +

Squamous Cell Lung Carcinoma +

T-Cell Acute Lymphoblastic Leukemia +

T-Cell Lymphoblastic Lymphoma +

Therapy-Related Acute Myeloid Leukemia +


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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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