Search results for "Retinal Neoplasms"

showing 4 items of 4 documents

Retinoblastoma Is Characterized by a Cold, CD8+ Cell Poor, PD-L1- Microenvironment, Which Turns Into Hot, CD8+ Cell Rich, PD-L1+ After Chemotherapy.

2021

Purpose To investigate the impact of chemotherapy (CHT) on human retinoblastoma (RB) tumor microenvironment (TME). Cases and Methods Ninety-four RBs were studied, including 44 primary RBs treated by upfront surgery (Group 1) and 50 primary RBs enucleated after CHT (CHT), either intra-arterial (IAC; Group 2, 33 cases) or systemic (S-CHT; Group 3, 17 cases). Conventional and multiplexed immunohistochemistry were performed to make quantitative comparisons among the three groups, for the following parameters: tumor-infiltrating inflammatory cells (TI-ICs); programmed cell death protein 1 (PD-1) positive TI-ICs; Ki67 proliferation index; gliosis; PD-1 ligand (PD-L1) protein expression; vessel nu…

0301 basic medicineMaleTime FactorsProliferation indexRetinal NeoplasmsProgrammed Cell Death 1 Receptorretinoblastoma; tumor microenvironment; chemotherapy; PD-1/PD-L1; multiplexed immunohistochemistry; B7-H1 Antigen; CD8-Positive T-Lymphocytes; Child Preschool; Female; Follow-Up Studies; Humans; Immunohistochemistry; Infant; Infant Newborn; Lymphocytes Tumor-Infiltrating; Male; Programmed Cell Death 1 Receptor; Retinal Neoplasms; Retinoblastoma; Retrospective Studies; Time Factors; Tumor MicroenvironmentCD8-Positive T-LymphocyteschemotherapyPD-1/PD-L1B7-H1 AntigenRetina03 medical and health sciencesretinoblastoma; tumor microenvironment chemotherapy PD-1/PD-L1 multiplexed immunohistochemistry0302 clinical medicineLymphocytes Tumor-InfiltratingPD-L1medicineTumor MicroenvironmentHumansLymphocytesTumor-InfiltratingChildPreschoolAnaplasiaRetrospective StudiesTumor microenvironmentbiologyRetinoblastomaChemistryInfant NewbornRetinoblastomaInfantGeneral Medicinemultiplexed immunohistochemistrymedicine.diseaseNewbornChemotherapy regimenImmunohistochemistry030104 developmental biologyGliosis030220 oncology & carcinogenesisChild Preschoolbiology.proteinCancer researchFemalemedicine.symptomCD8Follow-Up StudiesInvestigative ophthalmologyvisual science
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Retinoblastoma epidemiology: Does the evidence matter?

2007

It has been proposed that retinoblastoma is 'caused' by two sequential mutations affecting the RB1 gene, but this is a rather outdated view of cancer aetiology that does not take into account a large amount of new acquisitions such as chromosomal and epigenetic alterations. Retinoblastoma remains probably the only cancer in which the rather simplistic 'two hit' mutational model is still considered of value, although cancer is known to be associated with genomic and microsatellite instability, defects of the DNA mismatch repair system, alterations of DNA methylation and hystone acethylation/deacethylation, and aneuploidy. Moreover, as it is shown herein, the predictions made by the 'two hit'…

AdultCancer ResearchAdolescentRetinal NeoplasmsRetinoblastoma Aneuploidy Two hit theoryDiseaseBiologyAge DistributionChromosome instabilitymedicineHumansEpigeneticsAge of OnsetChildGerm-Line MutationGeneticsRetinoblastomaRetinoblastomaMicrosatellite instabilityCancerInfantMiddle Agedmedicine.diseasePedigreeSettore BIO/18 - GeneticaOncologyChild PreschoolDNA methylationDNA mismatch repair
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A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activity.

2005

Hereditary predisposition to retinoblastoma is caused by germ line mutations in the RB1 gene. Genetic counseling of affected individuals and accurate risk prediction for their families requires identification of the disease causing mutation. Furthermore, the nature of a mutation can determine genetic penetrance, disease presentation and prognosis. We describe, and functionally characterize here, a novel mutant allele of RB1 present in the germ line of a patient with sporadic bilateral retinoblastoma. The mutation generates an operational splice acceptor site resulting in a predicted protein product with loss of 81 amino acids from its carboxy terminus. We demonstrate that the aberrantly spl…

AdultMaleTumor suppressor geneRNA SplicingRetinal NeoplasmsDNA Mutational AnalysisRetinoblastoma ProteinGeneticsmedicineMissense mutationHumansDisease-causing MutationExpressivity (genetics)Genes RetinoblastomaGenetics (clinical)GeneticsbiologyRetinoblastomaRetinoblastoma proteinRetinoblastomamedicine.diseasePenetranceeye diseasesIntronsPedigreeMutation (genetic algorithm)Mutationbiology.proteinHuman mutation
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Induction of apoptosis in human retinoblastoma cells by topoisomerase inhibitors

1998

PURPOSE:To examine the apoptotic effect induced in human retinoblastoma Y79 cells by camptothecin, etoposide, and amsacrine, to examine the effect of these drugs on the expression of many apoptosis-related modulators, and to test the antiapoptotic effect exerted by insulin-like growth factor-I (IGF-I). METHODS:Morphologic features of apoptosis were demonstrated using acridine orange- ethidium bromide staining and electron microscopy. DNA fragmentation was determined by means of an in situ cell detection procedure (TdT-dUTP terminal nick-end labeling [TUNEL]) or by electrophoresis on agarose gels and was quantified by enzyme-linked immunosorbent assay. The expression of apoptosis-related mod…

AmsacrineCyclin-Dependent Kinase Inhibitor p21topoisomeraseCell SurvivalRetinal NeoplasmsRetinoblastomaApoptosisDNA NeoplasmInsulin-Like Growth Factor Binding Protein 3DNA Topoisomerases Type IProto-Oncogene Proteins c-bcl-2CyclinsProto-Oncogene ProteinsDactinomycinTumor Cells CulturedHumansCamptothecinCycloheximideEnzyme InhibitorsTopoisomerase I InhibitorsTumor Suppressor Protein p53DNA DamageEtoposidebcl-2-Associated X Protein
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