FGFR2 alterations (fusion / amplification / mutation)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-FGFR2 |
|---|---|
| Type | Biomarker |
| Aliases | BICC1-FGFR2FGFR2 alterationsFGFR2 fusionFGFR2-AHCYL1Альтерації FGFR2 (фузія / амплифікація / мутація) |
| Status | reviewed 2026-04-27 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ESMO-NSCLC-METASTATIC-2024 SRC-NCCN-HCC-2025 SRC-ONCOKB |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "Constitutive FGFR2 kinase activity (fusion); receptor stabilization (mutations)", "gene": "FGFR2", "gene_hugo_id": "HGNC:3689", "hotspots": ["BICC1-FGFR2 fusion (intrahepatic cholangiocarcinoma — most common partner)", "FGFR2-AHCYL1 fusion", "FGFR2-CCDC6 fusion", "Amplification (gastric, breast)", "Activating mutations in extracellular Ig-domains (S252W, Y375C)"], "variant_type": "fusion / amplification / missense"} |
| Measurement | MethodRNA-NGS (preferred, captures fusion partners) OR DNA-NGS (CN + mutations + fusion-aware) OR FISH break-apart Unitscategorical (fusion: positive/negative); copy number ratio Sensitivity requirementRNA-NGS preferred for fusion; ctDNA acceptable when tissue limited |
| Related biomarkers | BIO-FGFR1 BIO-FGFR3-MUTATION |
Notes
FGFR2 fusion present in ~10–20% of intrahepatic cholangiocarcinoma — the canonical actionable alteration in this disease. Pemigatinib (FIGHT-202) and futibatinib (FOENIX-CCA2) FDA-approved for advanced cholangiocarcinoma harboring FGFR2 fusion or rearrangement after ≥1 prior systemic therapy. Resistance: gatekeeper (V564F) and molecular-brake mutations — futibatinib (covalent) retains activity against some pemigatinib-resistance variants. FGFR2 amplification also a niche signal in gastric and breast.
Used By
Actionability
BMA-FGFR2-AMP-GASTRIC- FGFR2 amplification in gastric/GEJ adenocarcinoma (~5-7% high-level): bemarituzumab (anti...BMA-FGFR2-BICC1-CHOLANGIO- BICC1-FGFR2 fusion is the most common FGFR2 fusion partner in intrahepatic cholangiocarci...BMA-FGFR2-FUSION-CHOLANGIO- FGFR2 fusion in intrahepatic cholangiocarcinoma (~10-15%): pemigatinib (FIGHT-202, Abou-A...BMA-FGFR2-MUTATION-ENDOMETRIAL- FGFR2 mutation in endometrial carcinoma (~10-12% endometrioid histology). Pemigatinib and...BMA-FGFR2-MUTATION-UROTHELIAL- FGFR2 fusion / activating mutation in metastatic urothelial carcinoma: erdafitinib (BLC20...
Biomarker
BIO-FGFR1- FGFR1 alterations (amplification / mutation / fusion)BIO-FGFR2B-IHC- FGFR2b protein expression by IHC (membranous staining)
Diseases
DIS-CHOLANGIOCARCINOMA- Cholangiocarcinoma (bile duct cancer)
Indications
IND-CHOLANGIO-2L-FGFR2-FUSION-PEMIGATINIB- IND-CHOLANGIO-2L-FGFR2-FUSION-PEMIGATINIBIND-CHOLANGIO-2L-FUTIBATINIB- IND-CHOLANGIO-2L-FUTIBATINIBIND-CHOLANGIO-2L-INFIGRATINIB- IND-CHOLANGIO-2L-INFIGRATINIB