P=N/A, N=22, Active, not recruiting, Centre Hospitalier Universitaire de Nice | Completed --> Active, not recruiting | Trial completion date: Jan 2024 --> Jan 2026
MCM6 acts as a critical regulator of retinoblastoma growth and modulates response to melphalan. Targeting MCM6 may offer a therapeutic approach to improve outcomes of chemotherapy in retinoblastoma.
It also underscores the importance of multidisciplinary management, timely intervention, and vigilant surveillance in cases with high-risk features. This case contributes to the limited literature on choroidal melanoma with perineural invasion, a rare finding with important prognostic implications.
Our study identifies SCD1-mediated lipid remodeling as a key driver of enhanced membrane fluidity and metastatic potential in CM. Inhibition of SCD1 increases lipid saturation, reduces membrane fluidity, induces oxidative stress, and suppresses liver and lung metastasis. The MAFG-METTL14-SCD1 axis thus represents a critical regulator of CM progression, and combined therapeutic targeting with aramchol and S-HFD offers promising translational potential.
The highest percentage of variants in RB corresponded to nonsense substitutions and indels, mainly affecting the Pocket domain, which is the major functional site for the pRb regulatory process. These results indicate the predominance of the most pathogenic variants related to the bilateral presentation of retinoblastoma.
Mild retinal disorganization across multiple imaging modalities expands the ocular phenotype of BHD and likely arises from defects in cellular adhesion mediated by FLCN. Larger cohorts of patients with BHD may be necessary to establish these ocular imaging abnormalities as part of the BHD phenotypic spectrum.
OCTA can be used successfully to evaluate vascular changes in OSSN during medical treatment. Superficial VD and superficial VDI might be useful to evaluate treatment response to topical treatment.
CJM tumors had intermediate tumor mutational burden, which was significantly higher compared to most cancers included in the cancer genome atlas (TCGA) project and suggest a role for immune checkpoint inhibitor treatment in patients with locally advanced or metastatic disease. These data allow for a better evaluation of the therapeutic options for CJM.
Effects of siRNA-dependent ZEB1 knockdown on UM cell proliferation and their sensitivity to the VEGF-A inhibitor Eylea (aflibercept) were tested by MTT and in a real-time proliferation assay...In addition, there is probably a ZEB1 feedback loop that is sensitive to a drop in VEGF-A concentration. The data obtained allow us to consider ZEB1 silencing as an auxiliary link for a combined strategy of killing UM cells.
In high-risk BRCA1-associated protein 1 (BAP1)-negative tumors, T cell function and tumor necrosis factor (TNF) superfamily genes were downregulated, indicating immune evasion. These findings underscore ANGPTL4, STAT3, and TNFRSF14 as potential biomarkers and drug targets, emphasizing the need to address tumor-intrinsic and tumor-extrinsic pathways to improve treatment strategies.
25 days ago
Journal • BRCA Biomarker
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BAP1 (BRCA1 Associated Protein 1) • TNFA (Tumor Necrosis Factor-Alpha) • STAT3 (Signal Transducer And Activator Of Transcription 3) • TNFRSF14 (TNF Receptor Superfamily Member 14) • IKBKE (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon)