0000000000410072

AUTHOR

Sonia De Francesco

showing 3 related works from this author

Does the evidence matter in medicine? The retinoblastoma paradigm.

2007

Retinoblastoma (Rb) is the most common intraocular malignant tumour in childhood, with an incidence of 1 in 15,000 live births. Complete information on this rare tumour can be easily accessed through the internet, although many aspect concerning the aetiology and pathogenesis of the disease, are still controversial. The "two hit" theory, formulated in 1971 to explain the variegated clinical expression of the disease, is based on the idea that single gene mutation may determine the development of cancer. However, this view does not take into account the most recent evidences showing the role of aneuploidy and chromosome instability in cancer. Also, a number of other genes and epigenetic mech…

microsatelliteCancer Researchtwo hit theoryAneuploidyDiseaseBiologymedicine.disease_causeBioinformaticsEpigenesis GeneticAge DistributionChromosome instabilityChromosomal InstabilitymedicineHumansGenetic Predisposition to DiseaseGeneticsEvidence-Based MedicineRetinoblastomaInfant NewbornRetinoblastomaCancerInfantmedicine.diseaseAneuploidyinstabilitySettore BIO/18 - GeneticaOncologyHereditary RetinoblastomaMutationEtiologyMicrosatellite Instabilitychromosome instabilityCarcinogenesisInternational journal of cancer
researchProduct

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
researchProduct

Missing Evidences in Cancer Genetics: The Retinoblastoma Paradigm

2008

BACKGROUND: Retinoblastoma (Rb) is the most common primary malignant intraocular tumour in childhood. The "two hit" theory, formulated by Knudson in 1971 to explain the variegated clinical expression of the disease, led to the discovery of the so called tumour suppressor genes and the identification of the Rb1 as the prototype of such genes. Mutations of the Rb1 gene are now commonly believed to be the "cause" retinoblastoma, although epidemiological, clinical, and biological evidences argue against it. MATERIAL/METHODS: The Authors have performed a systematic review of available data concerning clinical and diagnostic aspects of retinoblastoma, including molecular genetics. Meta analysis o…

Retinoblastoma pRBCancer Researchlcsh:CytologyRetinoblastomaCell BiologyGeneral Medicinelcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogenslcsh:RC254-282Retinoblastoma ProteinPathology and Forensic MedicineMutationHumansMolecular MedicineGenetic Predisposition to Diseaselcsh:QH573-671Letter to the EditorCellular Oncology : the Official Journal of the International Society for Cellular Oncology
researchProduct