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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EXAMPLE Germline Cancer Predisposition Genes

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

Swerdlow SH, Campo E, Harris NLJ, et al. Myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement 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, p71-9.

Adam C. Wilberger, Brandon McMahon & Mark D. Ewalt (2018) The power of the partner: defying expectations in a case of a myeloproliferative neoplasm with FGFR1 rearrangement, Leukemia & Lymphoma, DOI: 10.1080/10428194.2018.1516038

Baer C, Muehlbacher V, Kern W, Haferlach C, Haferlach T. Molecular genetic characterization of myeloid/lymphoid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, FGFR1 or PCM1-JAK2. Haematologica. 2018;103(8):e348-e350. doi:10.3324/haematol.2017.187302.

Wang Y, Wu X, Deng J, et al. Diagnostic application of next-generation sequencing in ZMYM2-FGFR1 8p11 myeloproliferative syndrome: A case report. Cancer Biology & Therapy. 2016;17(8):785-789. doi:10.1080/15384047.2016.1210727.

Notes

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