Urinary System Neoplasm

In contrast to controls (empty vector and FGFR3 wild-type overexpression NIH-3T3 cell lines), the stable transfection of NIH-3T3 cells with FGFR3b-S249C led to ligand-independent phosphorylation of FG… (full text at CIViC)

PMID 16338952 · Bernard-Pierrot et al., 2006 · Open in CIViC

FGFR3 S249C promoted FGF1 and IL-3 independent cell proliferation when transduced into Ba/F3 cells, whereas Ba/F3 cells with wildtype FGFR3 were IL-3 independent, but FGF1 dependent. R3Mab (monclonal … (full text at CIViC)

PMID 19381019 · Qing et al., 2009 · Open in CIViC

Activating FGFR3 mutations are found more frequently in lower grade / early stage urothelial carcinoma. FGFR mutations are also associated with high FGFR3 expression. FGFR3 expression therefore demons… (full text at CIViC)

PMID 16532037 · Lindgren et al., 2006 · Open in CIViC

The phase II NCI-MATCH trial (EAY131) subprotocol W assessed the FGFR1-3 selective TKI AZD-4547 in 48 patients with FGFR1/2 amplifications, FGFR2/3 SNV or FGFR1/3 fusions. The partial response overall… (full text at CIViC)

PMID 32463741 · Chae et al., 2020 · Open in CIViC

In a retrospective cohort of 32 patients with metastatic urothelial carcinoma harboring FGFR2/3 alterations treated with erdafitinib, FGFR3 S249C was the most common alteration (19/32, 59%). The overa… (full text at CIViC)

PMID 37682528 · Guercio et al., 2023 · Open in CIViC

This report describes a patient with metastatic urothelial bladder cancer harboring an FGFR3 S249C mutation who developed disease progression after platinum-based chemotherapy and avelumab maintenance… (full text at CIViC)

PMID 37343207 · Castro-Alonso et al., 2023 · Open in CIViC

The 97-7 bladder cancer cell line is heterozygous for FGFR3 S249C, which formed stable homodimers and was constitutively phosphorylated unlike WT FGFR3 found in NHUC cells. Retrovirus-mediated deliver… (full text at CIViC)

PMID 17384684 · Tomlinson et al., 2007 · Open in CIViC

This preclinical study evaluated the combination of erdafitinib and quisinostat in bladder cancer models harboring FGFR3 alterations, including the FGFR3 S249C bladder cancer cell line UM-UC-14. Compa… (full text at CIViC)

PMID 37479885 · Wang et al., 2023 · Open in CIViC

In a phase 1 multihistology trial of the FGFR1/2/3/4 inhibitor futibatinib, an objective response rate of 13.7% was seen with responses in a broad spectrum of tumors and across a broad spectrum of FGF… (full text at CIViC)

PMID 34551969 · Meric-Bernstam et al., 2022 · Open in CIViC

In a preclinical experiment, R3Mab (a monoclonal antibody specific to FGFR3) was tested against Ba/F3 and bladder carcinoma cell lines expressing FGFR3 wildtype and FGFR3 variants prevalent in bladder… (full text at CIViC)

PMID 19381019 · Qing et al., 2009 · Open in CIViC

In this open-label, phase II trial, 99 patients with locally advanced and unresectable or metastatic urothelial carcinoma with various FGFR alterations who had a history of disease progression during … (full text at CIViC)

PMID 31340094 · Loriot et al., 2019 · Open in CIViC

An Asian germline dataset (jMorp-14KJPN) was analyzed and five significantly enriched non-synonymous single nucleotide polymorphisms (SNPs) on the FGFR3 gene locus were found (Q29H, G65R, L164V, T450M… (full text at CIViC)

PMID 37980528 · Komura et al., 2023 · Open in CIViC

Phase II study (NCT02465060) from NCI-MATCH Trial (EAY131) Subprotocol W addressed the use of AZD4547 (an FGFR 1-3 inhibitor) in 48 tumor patients carrying FGFR 1-3 variants. Partial responses were ob… (full text at CIViC)

PMID 32463741 · Chae et al., 2020 · Open in CIViC

In this open-label, phase II trial, 99 patients with locally advanced and unresectable or metastatic urothelial carcinoma with various FGFR alterations who had a history of disease progression during … (full text at CIViC)

PMID 31340094 · Loriot et al., 2019 · Open in CIViC

Phase I dose-escalation cohort of patients with advanced solid tumors in which antineoplastic therapy (NCT01703481) was no longer effective using pan-FGFR inhibitor JNJ-42756493. Among 6 patients with… (full text at CIViC)

PMID 31088831 · Bahleda et al., 2019 · Open in CIViC

Y375C mutation results in activation of FGFR3 and is associated with bladder carcinoma. Patients with low-grade tumors were more likely to have FGFR3 mutations than those with high-grade tumors.

PMID 20542753 · Bodoor et al., 2010 · Open in CIViC

Using site-directed mutagenesis, the authors investigated the phenotypic and signaling consequences of three FGFR3 mutations, S249C, Y373C (in the paper described as Y375C), and K652E, in immortalized… (full text at CIViC)

PMID 19749790 · di Martino et al., 2009 · Open in CIViC

In this study of patients with FGFR-driven urothelial carcinoma treated with selective FGFR inhibitors, longitudinal ctDNA analysis identified emergent FGFR3 kinase domain mutations at disease progres… (full text at CIViC)

PMID 37377403 · Facchinetti et al., 2023 · Open in CIViC

In the open‑label phase II AVATAR trial (NCT01130519), patients with HLRCC‑associated papillary RCC harboring germline FH pathogenic variants (n = 43) received erlotinib plus bevacizumab, with ORR as … (full text at CIViC)

PMID 40532152 · Srinivasan et al., 2025 · Open in CIViC

In the open‑label phase II AVATAR trial (NCT01130519), patients with sporadic papillary RCC (n = 40) received erlotinib plus bevacizumab, with ORR as the primary endpoint. They demonstrated a lower OR… (full text at CIViC)

PMID 40532152 · Srinivasan et al., 2025 · Open in CIViC

A case study showed that the mTOR inhibitor everolimus exhibited a relatively long-term effect in a patient with renal cell carcinoma and a FLCN germline mutation (c. 1285dupC, likely loss of function… (full text at CIViC)

PMID 23995526 · Nakamura et al., 2013 · Open in CIViC

Genetic disruption of Flcn in mouse kidney distal tubule cells leads to tumorigenic transformation of these cells to develop allograft tumors with an aggressive histologic phenotype. mTOR pathway play… (full text at CIViC)

PMID 26418749 · Wu et al., 2015 · Open in CIViC

In a patient with Birt-Hogg-Dubé syndrome-associated papillary renal cell carcinoma use of everolimus as sixth-line systematic treatment exhibited a relatively long-term effect as compared with the pr… (full text at CIViC)

PMID 23995526 · Nakamura et al., 2013 · Open in CIViC

In 219 patients with mostly Renal Cell Carcinoma and some Gastrointestinal Stromal tumors given sunitinib treatment, FLT3 T227M (rs1933437) was associated with the development of leukopenia. 95% confi… (full text at CIViC)

PMID 19667267 · van Erp et al., 2009 · Open in CIViC

This study demostrated that the progression-free survival, metastasis-free survival, and cancer-specific survival was significantly increased in patients with T393 homozygosity i.e. TT genotypes (56%,… (full text at CIViC)

PMID 15824158 · Frey et al., 2005 · Open in CIViC

In this study, Kaplan-Meier curves for tumor progression, development of metastasis, and tumor-related death showed a significant association of the T393C polymorphism with outcome (5-year cancer-spec… (full text at CIViC)

PMID 16467086 · Frey et al., 2006 · Open in CIViC

In a retrospective analysis of 20 patients with renal medullary carcinoma, all patients were found to have sickle cell trait (a condition due to a germline mutation in hemoglobin B known as HBB E6V), … (full text at CIViC)

PMID 30980040 · Jia et al., 2019 · Open in CIViC

In this phase Ib study (NCT01543763), the histone deacetylase (HDAC) inhibitor abexinostat was used in combination with the multi-tyrosine kinase inhibitor pazopanib to evaluate the effect of abexinos… (full text at CIViC)

PMID 28221861 · Aggarwal et al., 2017 · Open in CIViC

Immunohistochemical staining for HIF1A was performed on tumor samples from 65 patients that received pazopanib as part of VEG102616, of which 17 were classified as low expression and 48 were classifie… (full text at CIViC)

PMID 23881929 · Choueiri et al., 2013 · Open in CIViC

In 66 patients with advanced renal cell carcinoma, high expression of heme oxygenase-1 (HO-1) was associated with poor overall response rate (2.6% versus 53.6%, P<0.01), clinical benefit rate (47.4% v… (full text at CIViC)

PMID 26309414 · Zheng et al., 2015 · Open in CIViC

4 of 16 patients with urothelial carcinoma harboring HRAS hotspot point mutations and 1 patient with an HRAS frameshift insertion had a partial response to the farnesyltransferase inhibitor tipifarnib… (full text at CIViC)

PMID 32636318 · Lee et al., 2020 · Open in CIViC

This study evaluated the relationship between tumor mutations and treatment outcomes in the RECORD-3 clinical trial. With first-line everolimus, PBRM1 and BAP1 mutations were associated with longer (m… (full text at CIViC)

PMID 27751729 · Hsieh et al., 2017 · Open in CIViC

In this study, an EZH2 inhibitor was tested for effectiveness against KDM6A-null cancer in mouse and patient-derived xenografts. The growth of KDM6A null tumours was significantly inhibited in the in … (full text at CIViC)

PMID 28228601 · Ler et al., 2017 · Open in CIViC

123 patients with Cowden or Cowden-like syndrome (from the IRB8458-PTEN series) and 50 unaffected individuals without PTEN variants were analyzed for germline methylation and expression of PTEN and KI… (full text at CIViC)

PMID 21177507 · Bennett et al., 2010 · Open in CIViC

In preclinical xenograft models derived from KMT2C-deficient tumors (HTB9 BC, H1437 NSCLC, T84 COAD, Cal-33 HNSCC), PARP1/2 inhibition with olaparib significantly reduced tumor growth compared to KMT2… (full text at CIViC)

PMID 30665945 · Rampias et al., 2019 · Open in CIViC

In preclinical urothelial carcinoma (UC) models, combined loss of KMT2C/KMT2D increased sensitivity to EGFR inhibitors, with Kmt2c/d-deficient cells showing significantly reduced IC50 values for afati… (full text at CIViC)

PMID 39806204 · Wang et al., 2025 · Open in CIViC

In a retrospective analysis of 74 patients with papillary renal cell carcinoma, treated with foretinib, MET germline mutation was associated with improved response rate. A response was observed in 5 … (full text at CIViC)

PMID 23213094 · Choueiri et al., 2013 · Open in CIViC

In a single-arm phase II trial of pemetrexed in previously treated metastatic urothelial carcinoma selected for MTAP deficiency by IHC (NCT02693717; n = 7), 3 patients (42%) achieved ORR, with median … (full text at CIViC)

PMID 35379845 · Alhalabi et al., 2022 · Open in CIViC

In a retrospective study of 79 RCC patients treated with diverse rapalogs (mTOR inhibitors) inactivating TSC1 and TSC2-mutations and activating MTOR-mutations were significantly more common in respons… (full text at CIViC)

PMID 26831717 · Kwiatkowski et al., 2016 · Open in CIViC

A case-study of a patient with urothelial carcinoma reported exceptional response (14 months) in a phase 1 study of Everolimus and Pazopanib. Mutations E2014K and E2419K were shown to be activating in… (full text at CIViC)

PMID 24625776 · Wagle et al., 2014 · Open in CIViC

In an in vitro study, HEK293T cells expressing MTOR Q2223K, demonstrated sensitivity to temsirolimus treatment, comparable to HEK293T cells expressing wild-type MTOR. Sensitivity was determined by ass… (full text at CIViC)

PMID 24622468 · Voss et al., 2014 · Open in CIViC

Among 35 patients with clear cell RCC, loss-of-function mutation of PBRM1 were correlated with response to anti-PD-1 monotherapy (P = 0.012). It was confirmed in an independent validation cohort of 63… (full text at CIViC)

PMID 29301960 · Miao et al., 2018 · Open in CIViC

Among 35 patients with clear cell RCC, loss-of-function mutation of PBRM1 were correlated with response to anti-PD-1 monotherapy (P = 0.012). It was confirmed in an independent validation cohort of 6… (full text at CIViC)

PMID 29301960 · Miao et al., 2018 · Open in CIViC