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BIOMARKER:

FGFR3 R248C

i
Other names: FGFR3, ACH, CD333, CEK2, JTK4, Fibroblast growth factor receptor 3
Entrez ID:
Related tests:
1m
Artificial Intelligence (AI) Assisted Detection of FGFR3 Alterations In Bladder Cancer From Scanned Whole Slide Images (WSI) of H&E Sections (USCAP 2024)
We developed an effective AI system for detecting phenotypes associated with FGFR3 abnormalities that may be targetable by FGFR inhibitors. This system may allow cost and time savings in comparison to existing assays to screen bladder carcinomas for additional diagnostic testing.
FGFR3 (Fibroblast growth factor receptor 3) • TACC3 (Transforming acidic coiled-coil containing protein 3)
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FGFR3-TACC3 fusion • FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 R248C
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MSK-IMPACT
4ms
Development of a novel RNA-based fibroblast growth factor receptor response signature (FGFR-PRS) for use in patients with urothelial cancer (UC). (ASCO-GU 2024)
Background: Interest in FGFR-targeted (FGFRi) therapies for UC or pan-tumor use is growing (ongoing clinical studies include erdafitinib (NCT05316155; NCT04172675; NCT03390504; NCT04083976), LOXO-435 (NCT05614739), and pemigatinib (NCT03914794) following accelerated approval of erdafitinib in locally advanced/metastatic (m) post-chemotherapy UC patients with FGFR2/3 (i.e., DNA mutations and fusions) alterations (ALT). FGFR-PRS (+) captured most ALT (+) tumors and an additional 2X more with similar FGFR pathway activation. FGFR-PRS (+) tumors were associated with gene enrichments for ontologies linked to FGFR3 signaling. The correlation of FGFR-PRS score with in vitro FGFRi activity provided initial utility of the signature, which is undergoing clinical evaluation in the ALAMANCE retrospective study of UC patients treated with FGFRi or other standard-of-care therapies.
Clinical
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FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • FGFR (Fibroblast Growth Factor Receptor) • TACC3 (Transforming acidic coiled-coil containing protein 3) • FOXA1 (Forkhead Box A1) • BAIAP2L1 (BAI1 associated protein 2 like 1) • BAIAP2 (BAR/IMD Domain Containing Adaptor Protein 2)
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FGFR2 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 G370C • FGFR3 R248C • FGFR3 expression
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FGFR-PRS test
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Balversa (erdafitinib) • Pemazyre (pemigatinib) • LOXO-435
4ms
Real world experience of FGFR gene alterations and clinical outcomes in advanced/metastatic urothelial cancer in Japan: MONSTAR-SCREEN database study. (ASCO-GU 2024)
The results showed a similar trend to previous studies, where FGFR GA was reported in approximately 20% of metastatic UC patients. No difference was found in the PFS and the estimated survival rate by FGFR2/3 GA-positive or -negative patients. Our data showed that treatment pressure did not alter the FGFR status commonly.
Real-world evidence • Clinical data • Clinical • BRCA Biomarker • Real-world • Metastases
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • ARID1A (AT-rich interaction domain 1A) • FGFR (Fibroblast Growth Factor Receptor) • TACC3 (Transforming acidic coiled-coil containing protein 3) • BICC1 (BicC Family RNA Binding Protein 1) • BAIAP2L1 (BAI1 associated protein 2 like 1) • BAIAP2 (BAR/IMD Domain Containing Adaptor Protein 2) • CASP7 (Caspase 7)
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FGFR2 mutation • FGFR2 fusion • FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C
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FoundationOne® Liquid CDx
4ms
Comparison of tissue based FGFR mutation detection by Therascreen FGFR with UroTyper FGFR and ADC test and relevance for potential co-targeting with TROP2 and NECTIN4: Preview of Bladder BRIDGister. (ASCO-GU 2024)
Background: In view of the efficacy of FGFR targeting in early and advanced bladder cancer, as has been shown for erdafitinib in the THOR and NORSE trial, molecular testing of FGFR mutations and fusions will soon become clinical routine worldwide... PCR-based FGFR assessment by Therascreen and UroTyper is highly concordant and enables fast, local FGFR assessment within few hours. FGFR3 mutations are associated with increased TROP2 & NECTIN4 expression indicating potential synergistic options which warrants further exploration as part of molecularly stratified clinical trials.
FGFR3 (Fibroblast growth factor receptor 3) • FGFR (Fibroblast Growth Factor Receptor) • NECTIN4 (Nectin Cell Adhesion Molecule 4) • PPARG (Peroxisome Proliferator Activated Receptor Gamma) • TACSTD2 (Tumor Associated Calcium Signal Transducer 2)
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FGFR3 mutation • FGFR mutation • FGFR fusion • FGFR3 S249C • FGFR3 overexpression • FGFR3 Y373C • NECTIN4 expression • FGFR3 G370C • FGFR3 R248C • FGF3 overexpression
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therascreen® FGFR RGQ RT-PCR Kit • Uromonitor®
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Balversa (erdafitinib)
7ms
A Study of Oral Erdafitinib in People With Recurrent Non-Invasive Bladder Cancer (clinicaltrials.gov)
P2; Trial completion date: Aug 2023 --> Aug 2025 | Trial primary completion date: Aug 2023 --> Aug 2025
Trial completion date • Trial primary completion date
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FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C
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MSK-IMPACT
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Balversa (erdafitinib)
9ms
A Study to Assess Safety, Tolerability, and Pharmacokinetics of ABSK121-NX in Patients With Advanced Solid Tumors (clinicaltrials.gov)
P1, N=169, Recruiting, Abbisko Therapeutics Co, Ltd | Not yet recruiting --> Recruiting | Initiation date: Dec 2022 --> Jun 2023
Enrollment open • Trial initiation date • Metastases
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FGFR2 (Fibroblast growth factor receptor 2)
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FGFR2 mutation • FGFR2 fusion • FGFR2 amplification • FGFR3 mutation • FGFR3 S249C • FGFR2 rearrangement • FGFR3 Y373C • FGFR3 G370C • FGFR3 R248C
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ABSK121
12ms
Investigation of the mutational status of the FGFR3 gene in urothelial bladder carcinoma (PubMed, Arkh Patol)
A positive somatic mutational status of the FGFR3 gene was statistically significantly more common in the group of papillary low-grade non-muscle-invasive BC, demonstrating basal p16 IHC staining. In the study sample, there was no statistically significant relationship between the FGFR3 status of BC and gender and age differences, TILs, MMR status, PD-L1 status (SP142 and 22C3), and p16 status. The results of the study indicate the need to determine the FGFR3 status in patients with BC for further prescription of personalized therapy.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • FGFR3 (Fibroblast growth factor receptor 3)
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PD-L1 expression • PD-L1 overexpression • MSI-H/dMMR • FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 G370C • FGFR3 R248C • FGFR3 expression • FGFR3 positive
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PD-L1 IHC 22C3 pharmDx • VENTANA PD-L1 (SP142) Assay
1year
PROOF 302: Study of Oral Infigratinib for the Adjuvant Treatment of Subjects With Invasive Urothelial Carcinoma With Susceptible FGFR3 Genetic Alterations (clinicaltrials.gov)
P3; N=218 --> 39 | Trial completion date: Jan 2025 --> Jan 2023 | Active, not recruiting --> Terminated | Trial primary completion date: Jan 2024 --> Jan 2023; The sponsor has decided to close the study due to the discontinuation of infigratinib development. The discontinuation of the study was not due to safety reasons.
Trial completion date • Trial primary completion date • Enrollment change • Trial termination
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FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C • FGFR3 K650E
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FoundationOne® CDx
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Truseltiq (infigratinib)
1year
Non-small Cell Lung Carcinoma with Clear Cell Features and FGFR3::TACC3 Gene Rearrangements: Clinicopathologic and Molecular Genetic Analysis of 7 Cases (USCAP 2023)
FGFR3 :: TACC3 fusions may occur de-novo or as a secondary treatment resistance mechanism in NSCLC. These fusions appear to be enriched in smokers or former smokers and more frequently occur with squamous cell carcinoma histology and may demonstrate clear cell morphology by light microscopy. Identification of FGFR alterations is of particular importance given the lack of targeted therapeutic options for patients with squamous cell carcinoma.
Clinical
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FGFR3 (Fibroblast growth factor receptor 3) • TACC3 (Transforming acidic coiled-coil containing protein 3) • NKX2-1 (NK2 Homeobox 1)
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TP53 mutation • KRAS mutation • EGFR mutation • KRAS G12D • FGFR3 mutation • KRAS G12 • FGFR3 fusion • EGFR mutation + KRAS mutation • FGFR3 R248C • FGFR3 amplification • TP53 R273C
over1year
New P1 trial • Metastases
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FGFR2 (Fibroblast growth factor receptor 2)
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FGFR2 mutation • FGFR2 fusion • FGFR2 amplification • FGFR3 mutation • FGFR3 S249C • FGFR2 rearrangement • FGFR3 Y373C • FGFR3 G370C • FGFR3 R248C
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ABSK121
over1year
FGFR Mutations and Associated Variant Histology in Urothelial Carcinoma (AMP 2022)
Variant histology was appreciated in 76% of FGFR mutated cases, with the micropapillary pattern being the most prevalent (n=12 | 32%). The FGFR pathway is classically associated with low-grade papillary tumors, which, through additional mutations, can cause invasive, high-grade disease. It is speculated that the initial papillary architecture present in FGFR mutated lesions may be preserved, manifesting as the micropapillary pattern appreciated in some invasive lesions.
FGFR3 (Fibroblast growth factor receptor 3) • FGFR (Fibroblast Growth Factor Receptor)
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FGFR3 mutation • FGFR mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C • FGFR3 amplification
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therascreen® FGFR RGQ RT-PCR Kit
over1year
Enrollment closed
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FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C • FGFR3 K650E
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FoundationOne® CDx
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Truseltiq (infigratinib)
almost2years
Clinicopathological characterization, FGFR alteration prevalence, and outcomes of locally advanced or metastatic urothelial cancer in Latin America (LACOG 1518). (ASCO 2022)
Gemcitabine-platinum combinations were the backbone of choice in 93.7% of pts receiving combined chemotherapy. Pembrolizumab and atezolizumab were the chosen first-line agents for 10.3% and 4% of the treated pts, respectively... The prevalence of FGFR alterations in advanced UC in Latin America is similar to those described in other regions. Our data suggest limited access to FGFR inhibitors for the treatment of advanced UC in Latin America.
Clinical • PD(L)-1 Biomarker • IO biomarker
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FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR (Fibroblast Growth Factor Receptor) • TACC3 (Transforming acidic coiled-coil containing protein 3) • BICC1 (BicC Family RNA Binding Protein 1) • BAIAP2L1 (BAI1 associated protein 2 like 1) • CASP7 (Caspase 7)
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FGFR2 mutation • FGFR2 fusion • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C • FGFR3-BAIAP2L1 fusion
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Keytruda (pembrolizumab) • Tecentriq (atezolizumab) • gemcitabine
almost2years
Frequency of Fibroblast Growth Factor Receptor Alterations and Association With Bacillus Calmette-Guerin Outcomes in a Real-World Genomic Analysis of High-Risk Non-Muscle-Invasive Bladder Cancer (GARNER) Study (AUA 2022)
Among 174 pts with available FGFRalt data pre and post BCG, FGFRalt status was maintained post BCG for most (54 [31%] pts had FGFRalt pre vs 51 [29%] post BCG). Conclusions : Overall, 30.3% of pts with HR NMIBC had FGFR+ tumors and pts with HR NMIBC had similar outcomes post BCG regardless of FGFR status.
Clinical • Real-world evidence
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FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR (Fibroblast Growth Factor Receptor) • TACC3 (Transforming acidic coiled-coil containing protein 3) • BICC1 (BicC Family RNA Binding Protein 1) • BAIAP2L1 (BAI1 associated protein 2 like 1) • CASP7 (Caspase 7)
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FGFR2 mutation • FGFR2 fusion • FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C
2years
Enrollment open
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FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C
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MSK-IMPACT
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Balversa (erdafitinib)
2years
Analytical concordance of 3 independent diagnostic assays for the detection of FGFR alterations in urothelial carcinoma tumor tissue (AACR 2022)
There was a high level of analytical concordance in detection of FGFR alterations indicated for erdafitinib between the Qiagen companion diagnostic assay and 2 commercially available NGS platforms. >
Diagnostic assay
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FGFR3 (Fibroblast growth factor receptor 3) • FGFR (Fibroblast Growth Factor Receptor) • TACC3 (Transforming acidic coiled-coil containing protein 3)
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FGFR3-TACC3 fusion • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 R248C
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TruSight Oncology 500 Assay • therascreen® FGFR RGQ RT-PCR Kit
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Balversa (erdafitinib)
2years
Prognostic impact of fibroblast growth factor receptor (FGFR) genomic alterations and outcomes in patients with metastatic urothelial. (ASCO-GU 2022)
Despite a better response to first line treatment, overall FGFR GA showed to be an independent risk factor in mUC. Thus, this determination should be included in new prognostic models. Univariable and multivariable analysis for overall survival in the first line treatment setting for mUC.
Clinical
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FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR (Fibroblast Growth Factor Receptor) • BICC1 (BicC Family RNA Binding Protein 1) • BAIAP2L1 (BAI1 associated protein 2 like 1) • CASP7 (Caspase 7)
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FGFR2 mutation • FGFR2 fusion • FGFR mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C • FGFR3-BAIAP2L1 fusion • FGFR wild-type
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FoundationOne® CDx • therascreen® FGFR RGQ RT-PCR Kit
over2years
Insights of fibroblast growth factor receptor 3 aberrations in pan-cancer and their roles in potential clinical treatment. (PubMed, Aging (Albany NY))
Targetable mutations were mainly detected in BLCA, and S249C, Y373C, G370C, and R248C were hotspot mutations that could be targeted by an FDA approved erdafitinib...FGFG3 abnormal expression and alterations exhibited clinical correlations with patient prognosis in several tumors. This work exhibited the full alteration spectrum of FGFR3 and indicated several new clues for their application as potential therapeutic targets and prognostic indicators.
Clinical • Journal • Pan tumor
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FGFR3 (Fibroblast growth factor receptor 3) • TACC3 (Transforming acidic coiled-coil containing protein 3)
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FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C • FGFR3 expression
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Balversa (erdafitinib)
almost3years
A Study of Erdafitinib in People With Recurrent Non-Invasive Bladder Cancer (clinicaltrials.gov)
P2; N=25; Not yet recruiting; Sponsor:Memorial Sloan Kettering Cancer Center
New P2 trial • Clinical
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FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C
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MSK-IMPACT
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Balversa (erdafitinib)
over3years
[VIRTUAL] Identification of FGFR Mutations in Chinese Lung Cancer Patients by Next-Generation Sequencing (IASLC-WCLC 2020)
Food and Drug Administration (FDA) has approved Balversa (erdafitinib) for metastatic bladder cancer treatment, and more FGFR inhibitors are currently being evaluated clinically in many other cancer types, including lung cancer...Hopefully, more patients with other FGFR mutations may benefit from FGFR inhibitors as well, which needs further clinical investigation. Meanwhile, the exclusive relationship between druggable FGFR mutations and other actionable variations in lung cancers defines a unique molecular subtype, extending the number of patients who can benefit from targeted therapy.
Clinical • Next-generation sequencing
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EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • FGFR2 (Fibroblast growth factor receptor 2) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • FGFR (Fibroblast Growth Factor Receptor) • FGFR4 (Fibroblast growth factor receptor 4)
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BRAF V600E • EGFR mutation • BRAF V600 • FGFR1 amplification • FGFR2 mutation • FGFR2 fusion • ALK fusion • FGFR mutation • FGFR1 mutation • ROS1 fusion • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 G370C • FGFR3 R248C • NTRK1 mutation • FGFR3 Y375C • FGFR2 S252W
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Balversa (erdafitinib)
almost4years
A novel ultra-sensitive method for the detection of FGFR3 mutations in urine of bladder cancer patients - Design of the Urodiag® PCR kit for surveillance of patients with non-muscle-invasive bladder cancer (NMIBC). (PubMed, BMC Med Genet)
"We developed and clinically validated the MASO-PCR assay, generating cost-effective, simple, fast and clinically applicable assay for the detection of FGFR3 mutations in urine. We also designed the Urodiag® PCR Kit, which includes the MASO-PCR and QM-MSPCR assays. Adapted to routine clinical laboratory (simplicity, accuracy), the kit will be a great help to urologists for recurrence surveillance in patients at low-, intermediate- and high-risk NMIBC. Reducing the number of unnecessary cystoscopies, it will have extremely beneficial effects for patients (painless) and for the healthcare systems (low cost)."
Journal • Clinical
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FGFR3 (Fibroblast growth factor receptor 3) • SLIT2 (Slit Guidance Ligand 2)
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FGFR3 mutation • FGFR3 S249C • FGFR3 R248C • FGFR3 Y375C
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Urodiag®
almost4years
[VIRTUAL] MSK-ACCESS for the detection of fibroblast growth factor receptor-3 (FGFR3) mutations in plasma cell-free (cf)DNA of metastatic urothelial carcinoma (mUC) patients (pts) pre- and on erdafitinib (erda) therapy. (ASCO 2020)
A high degree of concordance between primary tumor and cfDNA FGFR3 mutation detection was observed. FGFR3 mutations exclusive to cfDNA were found in a subset of pts. Further pt accrual and follow-up are ongoing to assess for correlations between erda response and tx-related changes in cfDNA MAF, and to assess whether cfDNA can identify resistance mechanisms.
Clinical
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FGFR2 (Fibroblast growth factor receptor 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR (Fibroblast Growth Factor Receptor) • TACC3 (Transforming acidic coiled-coil containing protein 3) • FGF (Fibroblast Growth Factor)
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FGFR2 mutation • FGFR3 mutation • FGFR3 S249C • FGFR3 Y373C • FGFR3 fusion • FGFR3 R248C • IKZF1 deletion + PAX5 deletion
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Balversa (erdafitinib)