0000000000001676

AUTHOR

Gabriele Amann

showing 5 related works from this author

A multilocus technique for risk evaluation of patients with neuroblastoma.

2011

Abstract Purpose: Precise and comprehensive analysis of neuroblastoma genetics is essential for accurate risk evaluation and only pangenomic/multilocus approaches fulfill the present-day requirements. We present the establishment and validation of the PCR-based multiplex ligation-dependent probe amplification (MLPA) technique for neuroblastoma. Experimental Design: A neuroblastoma-specific MLPA kit was designed by the SIOP Europe Neuroblastoma Biology Committee in cooperation with MRC-Holland. The contained target sequences cover 19 chromosomal arms and reference loci. Validation was performed by single locus and pangenomic techniques (n = 174). Dilution experiments for determination of min…

OncologyGenetic MarkersCancer Researchmedicine.medical_specialtyConcordanceBioinformaticsRisk AssessmentNeuroblastoma cellNeuroblastomaRisk groupsLimit of DetectionInternal medicineNeuroblastomamedicineComputer GraphicsHumansMultiplexMultiplex ligation-dependent probe amplificationOncogene ProteinsN-Myc Proto-Oncogene Proteinbusiness.industryGene AmplificationNuclear Proteinsmedicine.diseaseDoenças GenéticasRisk evaluationOncologyMolecular Diagnostic TechniquesGenetic markerGenetic LociMutationbusinessClinical cancer research : an official journal of the American Association for Cancer Research
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Notch signalling is off and is uncoupled from HES1 expression in Ewing's sarcoma

2010

Notch can act as an oncogene or as a tumour suppressor and thus can either promote or inhibit tumour cell growth. To establish Notch status in Ewing's sarcoma family of tumours (ESFT), we investigated the Notch pathway by gene expression profiling meta-analysis or immunohistochemistry in samples obtained from 96 and 24 ESFT patients, respectively. We found that although Notch receptors were highly expressed, Notch did not appear to be active, as evidenced by the absence of Notch receptors in cell nuclei. In contrast, we show that Notch receptors known to be active in colon adenocarcinoma, hepatocarcinoma, and pancreatic carcinoma stain cell nuclei in these tumours. High expression of the No…

Pathologymedicine.medical_specialtyCellNotch signaling pathwayBone NeoplasmsSarcoma EwingBiologyPathology and Forensic MedicineBasic Helix-Loop-Helix Transcription FactorsTumor Cells CulturedmedicineHumansHES1HEY1Transcription factorCell ProliferationCell NucleusHomeodomain ProteinsRegulation of gene expressionReceptors NotchCell growthGene Expression ProfilingNeoplasm ProteinsGene Expression Regulation Neoplasticmedicine.anatomical_structureNeoplastic Stem CellsCancer researchTranscription Factor HES-1Cyclin-dependent kinase 8Signal TransductionThe Journal of Pathology
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Peripheral neuroblastic tumors with genotype-phenotype discordance: A report from the Children's Oncology Group and the International Neuroblastoma P…

2012

Background Of 4,706 peripheral neuroblastic tumors (pNTs) registered on the Children’s Cancer Group and Children’s Oncology Group Neuroblastoma Study between 1989 and 2010, 51 cases (1.1%) had genotype-phenotype discordance characterized by MYCN amplification (indicating poor prognosis) and Favorable Histology (indicating better prognosis).

OncologyPathologymedicine.medical_specialtybusiness.industryCancerHematologymedicine.diseaseNeuroblastic TumorN-Myc Proto-Oncogene ProteinGenotype phenotypePeripheralOncologyNeuroblastomaInternal medicinePediatrics Perinatology and Child HealthMycn amplificationMedicineImmunohistochemistrybusinessneoplasmsPediatric Blood & Cancer
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Prognostic value of International Neuroblastoma Pathology Classification in localized resectable peripheral neuroblastic tumors: a histopathologic st…

2006

Purpose To assess the prognostic value of clinical, biologic, and morphologic data in peripheral neuroblastic tumors, International Neuroblastoma Staging System (INSS) stages 2A and 2B MYCN nonamplified, a multinational protocol entitled Localized Neuroblastoma European Study Group trial 94.01, with a trial of surgery as the only treatment, was initiated in 1995. We present the prognostic value of the revised International Neuroblastoma Pathology Classification (INPC) applied to the patients included in this protocol until its closure in 1999. Materials and Methods A total of 120 neuroblastic tumors from trial patients were reviewed by the European International Society of Pediatric Oncolog…

Cancer Researchmedicine.medical_specialtyPathologyDisease-Free SurvivalNeuroblastomaPredictive Value of TestsNeuroblastomamedicineHumansSurvival analysisGanglioneuroblastomaL-Lactate Dehydrogenasebusiness.industryGanglioneuroblastomaAnatomical pathologymedicine.diseasePrognosisNeuroblastic TumorSurvival AnalysisClinical trialEuropeTreatment OutcomeOncologyPredictive value of testsHistopathologybusinessJournal of clinical oncology : official journal of the American Society of Clinical Oncology
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The genetic tumor background is an important determinant for heterogeneous MYCN ‐amplified neuroblastoma

2016

Amplification of MYCN is the signature genetic aberration of 20–25% of neuroblastoma and a stratifying marker associated with aggressive tumor behavior. The detection of heterogeneous MYCN amplification (hetMNA) poses a diagnostic dilemma due to the uncertainty of its relevance to tumor behavior. Here, we aimed to shed light on the genomic background which permits hetMNA in neuroblastoma and tied the occurrence to other stratifying markers and disease outcome. We performed SNP analysis using Affymetrix Cytoscan HD arrays on 63 samples including constitutional DNA, tumor, bone marrow and relapse samples of 26 patients with confirmed hetMNA by MYCN‐FISH. Tumors of patients ≤18m were mostly an…

Male0301 basic medicineCancer ResearchPathologymedicine.medical_specialtyTumor Markers and Signaturesuniparental disomyAdolescentMYCN amplificationAneuploidyBiologyPolymorphism Single NucleotideN-Myc Proto-Oncogene ProteinBenign tumorGenetic HeterogeneityNeuroblastoma03 medical and health sciences0302 clinical medicineNeuroblastomamedicineHumansChildIn Situ Hybridization FluorescenceChromosome AberrationsOncogene ProteinsN-Myc Proto-Oncogene ProteinGenetic heterogeneityGene AmplificationInfantNuclear ProteinsAneuploidymedicine.diseaseUniparental disomy030104 developmental biologyOncologyChild Preschool030220 oncology & carcinogenesisintratumoral heterogeneityCancer researchFemaleChromosome DeletionTrisomySNP arrayInternational Journal of Cancer
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