Overview

Variant Type
Fusion
Genes
IGH and FGFR3

IGH-FGFR3 Fusion is present in 0.08% of AACR GENIE cases, with follicular lymphoma, mature B-cell neoplasm, multiple myeloma, adamantinomatous craniopharyngioma, and B-cell lymphoblastic leukemia/lymphoma having the greatest prevalence [4].

Top Disease Cases with IGH-FGFR3 Fusion

Significance of IGH-FGFR3 Fusion in Diseases

Multiple Myeloma +

Plasma Cell Leukemia +

Acute Myeloid Leukemia +

Chronic Lymphocytic Leukemia +

Myelodysplastic Syndromes +

Smoldering Plasma Cell Myeloma +

Non-Hodgkin Lymphoma +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Lymphoma +

Chronic Myelomonocytic Leukemia +

Hodgkin Lymphoma +

Myeloma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Cancer +

Aplastic Anemia +

Diffuse Large B-Cell Lymphoma +

Double-Hit Lymphoma +

Lymphoblastic Lymphoma +

Mantle Cell Lymphoma +

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

Myelodysplastic/Myeloproliferative Neoplasm +

Myelofibrosis +

Myeloproliferative Neoplasm +

Plasmacytoma +

Prolymphocytic Leukemia +

Small Lymphocytic Lymphoma +

T-Cell Prolymphocytic Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Triple-Hit Lymphoma +

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. 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.