Interestingly, a variety of fgfr2 gene fusions have been recently identified in icca. Agfusion simply needs the reference genome, the two gene partners, and the fusion junction coordinates as input, and outputs the following. Comprehensive molecular profiling of intrahepatic and extrahepatic. A metabolic function of fgfr3tacc3 gene fusions in cancer. Identification of targetable fgfr gene fusions in diverse cancers. The rise of the fgfr inhibitor in advanced biliary cancer. Fibroblast growth factor receptor 2 fusions as a target. The varscan2 software was employed in above analyses because of their. For instance, the bcrabl fusion gene mutation is critical in.
Tumor heterogeneity and acquired drug resistance in fgfr2fusion. Gene fusions are an important class of driver mutations that play a vital role in certain cancer 34. Co occurring alterations in the known nsclc driver genes egfr and mnng hos. A fulllength representative protein consists of an extracellular region, composed of three immunoglobulinlike.
Created by chromosomal translocation, numerous fgfr2 fusion proteins have been identified. Identification of targetable fgfr gene fusions in diverse. Fgfr family members differ from one another in their ligand affinities and tissue distribution. Massive parallel sequencing uncovers actionable fgfr2. Box plot spans the first to third quartiles and whiskers show the 1. The identification of these fusion genes play a prominent role in being a diagnostic and prognostic marker. Fusion genes have been found to be prevalent in all main types of human neoplasia. The kit provides all the reagents necessary for the rapid and sensitive detection of eight fgfr gene fusions. Recent studies that have identified fibroblast growth factor receptor 2 fgfr2 fusions, prognostic implications of fgfr2 fusions, treatment strategies that target fgfr2 in cca and future directions for understanding and targeting the fgfr2 pathway in this disease, will be discussed. Recurrent gene fusions are an important class of driver mutation in cancer as exemplified by the bcrabl gene fusion which characterizes. It can occur as a result of translocation, interstitial deletion, or chromosomal inversion.
Arid1a 23 % bap1 20%, tp53 20% and fgfr2 gene fusions 14%. Tumor heterogeneity and acquired drug resistance in fgfr2. The fgfr fusions detected have persistently exhibited substantial dimerization domain contributions from the 3. Massive parallel sequencing uncovers actionable fgfr2pphln1 fusion and araf mutations in intrahepatic cholangiocarcinoma. Fibroblast growth factor receptor 2 tyrosine kinase fusions define a. Fgfr2clip1 fusion gene variant and the secondary fgfr2 mutation identified in the pa tient have also been deposited to clinvar s. Fusioncatcher a tool for finding somatic fusion genes in. Arid1a 23% bap1 20%, tp53 20% and fgfr2 gene fusions 14%. The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. Functions of fgfr2 corrupted by translocations in intrahepatic. Detection of known and novel fgfr fusions in nonsmall cell.
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