FOXD1 Is a Transcription Factor Important for Uveal Melanocyte Development and Associated with High-Risk Uveal Melanoma

Bosch, Quincy C. C. van den; Nguyen, Josephine Q.N.; Brands, Tom; Bosch, Thierry van den; Verdijk, Robert M.; Paridaens, Dion; Naus, Nicole; Klein, Annelies de; Kılıç, Emine; Brosens, Erwin

doi:10.3390/cancers14153668

Cited by 6 publications

(4 citation statements)

References 75 publications

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“…And although this gene is very interesting, we could not obtain sufficient samples to analyze MBD4 as a subgroup. Next to the secondary driver mutations, differential expression of the genes FOXD1 [ 38 ], HES6 [ 39 ], ABHD6 [ 40 ], and PRC1 [ 41 ] is associated with metastasis formation in either BAP1 or SF3B1 -mutated UMs. Unfortunately, we do not have transcriptomic information on most of the selected patients in this study.…”

Section: Discussionmentioning

confidence: 99%

Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood

Bruyn

Bongaerts

Bonte

et al. 2023

IJMS

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Uveal melanomas (UM) are detected earlier. Consequently, tumors are smaller, allowing for novel eye-preserving treatments. This reduces tumor tissue available for genomic profiling. Additionally, these small tumors can be hard to differentiate from nevi, creating the need for minimally invasive detection and prognostication. Metabolites show promise as minimally invasive detection by resembling the biological phenotype. In this pilot study, we determined metabolite patterns in the peripheral blood of UM patients (n = 113) and controls (n = 46) using untargeted metabolomics. Using a random forest classifier (RFC) and leave-one-out cross-validation, we confirmed discriminatory metabolite patterns in UM patients compared to controls with an area under the curve of the receiver operating characteristic of 0.99 in both positive and negative ion modes. The RFC and leave-one-out cross-validation did not reveal discriminatory metabolite patterns in high-risk versus low-risk of metastasizing in UM patients. Ten-time repeated analyses of the RFC and LOOCV using 50% randomly distributed samples showed similar results for UM patients versus controls and prognostic groups. Pathway analysis using annotated metabolites indicated dysregulation of several processes associated with malignancies. Consequently, minimally invasive metabolomics could potentially allow for screening as it distinguishes metabolite patterns that are putatively associated with oncogenic processes in the peripheral blood plasma of UM patients from controls at the time of diagnosis.

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Section: Discussionmentioning

confidence: 99%

Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood

Bruyn

Bongaerts

Bonte

et al. 2023

IJMS

Self Cite

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“…also developed a prognostic risk model based on basement membrane protein-related genes ( 30 ), and glycosylation-based gene signature and hypoxia-related gene signature were described as well by integrating single-cell analysis and machine learning ( 31 , 32 ). Re-analyzing publicly available single cell RNA sequencing, researchers found that FOXD1 exclusively expressed in high-risk UM and its expression is associated with a poor prognosis, suggesting FOXD1 as a new biomarker for the diagnosis of UM ( 33 ).…”

Section: Biomarkers and Predictive Modelsmentioning

confidence: 99%

Single cell RNA-sequencing in uveal melanoma: advances in heterogeneity, tumor microenvironment and immunotherapy

Tang,

Zhang,

Huang

et al. 2024

Front. Immunol.

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Uveal melanoma (UM) is a highly aggressive and fatal tumor in the eye, and due the special biology of UM, immunotherapy showed little effect in UM patients. To improve the efficacy of immunotherapy for UM patients is of great clinical importance. Single-cell RNA sequencing(scRNA-seq) provides a critical perspective for deciphering the complexity of intratumor heterogeneity and tumor microenvironment(TME). Combing the bioinformatics analysis, scRNA-seq could help to find prognosis-related molecular indicators, develop new therapeutic targets especially for immunotherapy, and finally to guide the clinical treatment options.

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“…Melanoma (melanoma malignum) is a malignant neoplasm most commonly found on the skin, originating from melanocytes, and overexposure to harmful UV radiation is considered to be the main cause of its occurrence [30,31]. This neoplasm shows a rather high potential to cause metastasis.…”

Section: Use Of Betulin and Betulinic Acid In The Treatment Of Skin D...mentioning

confidence: 99%

Betulin – application in dermatology and cosmetology

Pielok¹,

Grymel²

2023

Aesth Cosmetol Med

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Betulin (BN) is a natural lupane-type triterpene extracted from many plant species. Its main source is the outer bark layer of birch trees of the Betulaceae family. BN exhibits a number of biological properties, including anti-inflammatory, antioxidant, anticancer and bacteriostatic effects. The article aimed to present the biological properties of BN and its plausible use in cosmetology and dermatology. BN and its derivatives have significant therapeutic potential, which opens wide possibilities for their use in the treatment of various skin diseases.

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FOXD1 Is a Transcription Factor Important for Uveal Melanocyte Development and Associated with High-Risk Uveal Melanoma

Cited by 6 publications

References 75 publications

Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood

Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood

Single cell RNA-sequencing in uveal melanoma: advances in heterogeneity, tumor microenvironment and immunotherapy

Betulin – application in dermatology and cosmetology

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