FGFR1
Primary Author(s)*
Brian Davis PhD
Synonyms
"Fibroblast Growth Factor Receptor 1"; "Basic Fibroblast Growth Factor Receptor 1"; BFGFR; "Heparin-Binding Growth Factor Receptor "; HBGFR; "Fms-Related Tyrosine Kinase 2"; "Fms-Like Tyrosine Kinase 2"; FLT2; CEK; FLG; CD331; ECCL; KAL2
Genomic Location
Cytoband: 8p11.23
Genomic Coordinates:
chr8:38,411,138-38,468,834 [hg38]
chr8:38,268,656-38,326,352 [hg19]
Cancer Category/Type
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1
According to "WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues", "...clinical and morphologic presentations associated with FGFR1 rearrangement are variable, and include not only presentation as a myeloproliferative neoplasm with eosinophilia, but also as AML and they may even present as, or evolve to, precursor T or B lymphoblastic leukaemia/lymphoma with prominent eosinphils." (p.28).
FGFR1 rearrangements are used to rule out diagnoses of Chronic Eosinophilic Leukaemia (p.54) and Myeloproliferative neoplasm,unclassifiable (p.66).
In the case of FGFR1-related disease, a lymphomatous presentation is common, particularly T-LBL with accompanying eosinophilia. Other patients have had CEL, precursor-B lymphoblastic leukaemia/ lymphoma or AML. (.70).
Gene Overview
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Common Alteration Types
A number of genes can serve as partner with FGFR1 and 13 are described in the literature. The translocation wiht ZMYM2 is hte most common (approx 40%) as well as other common partners BCR, CNTRL and FGFR1OP (Wilberger et al. 2018 and references within).
| Copy Number Loss | Copy Number Gain | LOH | Loss-of-Function Mutation | Gain-of-Function Mutation | Translocation/Fusion |
|---|---|---|---|---|---|
| EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X |
Internal Pages
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External Links
FGFR1 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
FGFR1 by COSMIC - sequence information, expression, catalogue of mutations
FGFR1 by CIViC - general knowledge and evidence-based variant specific information
FGFR1 by St. Jude ProteinPaint mutational landscape and matched expression data.
FGFR1 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
FGFR1 by Cancer Index - gene, pathway, publication information matched to cancer type
FGFR1 by OncoKB - mutational landscape, mutation effect, variant classification
FGFR1 by NCBI Gene - brief gene overview
FGFR1 by My Cancer Genome - brief gene overview
FGFR1 by UniProt - protein and molecular structure and function
FGFR1' by Pfam - gene and protein structure and function information
FGFR1 by GeneCards - general gene information and summaries
FGFR1 by OMIM - compendium of human genes and genetic phenotypes
FGFR1' by LOVD(3) - Leiden Open Variation Database
FGFR1 by TICdb - database of Translocation breakpoints In Cancer
References
EXAMPLE Book
- Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
EXAMPLE Journal Article
- Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
Notes
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