0000000000523552

AUTHOR

I.m. Ambros

showing 5 related works from this author

Comparative genetic study of intratumoral heterogenous MYCN amplified neuroblastoma versus aggressive genetic profile neuroblastic tumors.

2016

Intratumoral heterogeneous MYCN amplification (hetMNA) is an unusual event in neuroblastoma with unascertained biological and clinical implications. Diagnosis is based on the detection of MYCN amplification surrounded by non-amplified tumor cells by fluorescence in situ hybridization (FISH). To better define the genetic features of hetMNA tumors, we studied the Spanish cohort of neuroblastic tumors by FISH and single nucleotide polymorphism arrays. We compared hetMNA tumors with homogeneous MNA (homMNA) and nonMNA tumors with 11q deletion (nonMNA w11q-). Of 1091 primary tumors, 28 were hetMNA by FISH. Intratumoral heterogeneity of 1p, 2p, 11q and 17q was closely associated with hetMNA tumor…

Adult0301 basic medicineCancer ResearchCandidate geneAdolescentGene DosageSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideGene dosageGenetic profileCohort StudiesNeuroblastomaYoung Adult03 medical and health sciences0302 clinical medicineNeuroblastomaGeneticsmedicineHumansChildMolecular BiologyIn Situ Hybridization FluorescenceAgedAged 80 and overOncogene ProteinsGeneticsN-Myc Proto-Oncogene Proteinmedicine.diagnostic_testChromosomes Human Pair 11Nuclear ProteinsChromosomeMiddle Agedmedicine.diseaseNeuroblastic Tumor030104 developmental biologyChromosomes Human Pair 1Child PreschoolChromosomes Human Pair 2030220 oncology & carcinogenesisCancer researchChromosome DeletionChromosomes Human Pair 17Fluorescence in situ hybridization
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Segmental chromosomal alterations lead to a higher risk of relapse in infants with MYCN-non-amplified localised unresectable/disseminated neuroblasto…

2011

BACKGROUND: In neuroblastoma (NB), the presence of segmental chromosome alterations (SCAs) is associated with a higher risk of relapse. METHODS: In order to analyse the role of SCAs in infants with localised unresectable/disseminated NB without MYCN amplification, we have performed an array CGH analysis of tumours from infants enrolled in the prospective European INES trials. RESULTS: Tumour samples from 218 out of 300 enroled patients could be analysed. Segmental chromosome alterations were observed in 11%, 20% and 59% of infants enroled in trials INES99.1 (localised unresectable NB), INES99.2 (stage 4s) and INES99.3 (stage 4) (P<0.0001). Progression-free survival was poorer in patients wh…

OncologyCancer Researchmedicine.medical_specialtyPathologyChromosomal AlterationsN-Myc Proto-Oncogene Proteinsegmental chromosome alterationsneuroblastomaNeuroblastomaRecurrenceInternal medicineNeuroblastomamedicineHumansProspective StudiesStage (cooking)Relapse riskProspective cohort studygenomic profileSurvival analysisChromosome AberrationsOncogene ProteinsN-Myc Proto-Oncogene Proteininfantsbusiness.industryInfantNuclear ProteinsGenetics and GenomicsPrognosismedicine.diseaseSurvival AnalysisDoenças GenéticasOncologySegmental Chromosome AlterationsHigh RiskGenomic ProfilebusinessBritish Journal of Cancer
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Segmental chromosomal alterations have prognostic impact in neuroblastoma: a report from the INRG project

2012

Background: In the INRG dataset, the hypothesis that any segmental chromosomal alteration might be of prognostic impact in neuroblastoma without MYCN amplification (MNA) was tested. Methods: The presence of any segmental chromosomal alteration (chromosome 1p deletion, 11q deletion and/or chromosome 17q gain) defined a segmental genomic profile. Only tumours with a confirmed unaltered status for all three chromosome arms were considered as having no segmental chromosomal alterations. Results: Among the 8800 patients in the INRG database, a genomic type could be attributed for 505 patients without MNA: 397 cases had a segmental genomic type, whereas 108 cases had an absence of any segmental a…

OncologyCancer Researchmedicine.medical_specialtyPathologyBiologyLoss of heterozygosityneuroblastomaNeuroblastomaInternal medicineINRGmedicineHumansClinical significancegenomic profileSurvival analysisRetrospective StudiesChromosome AberrationsOncogene ProteinsN-Myc Proto-Oncogene ProteinUnivariate analysisgenetic alterationsChromosomes Human Pair 11InfantNuclear ProteinsChromosomeGenetics and GenomicsPrognosismedicine.diseaseSurvival AnalysisOncologyGenetic markerGenomic ProfileChromosomes Human Pair 17British Journal of Cancer
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Influence of segmental chromosome abnormalities on survival in children over the age of 12 months with unresectable localised peripheral neuroblastic…

2014

Background: The prognostic impact of segmental chromosome alterations (SCAs) in children older than 1 year, diagnosed with localised unresectable neuroblastoma (NB) without MYCN amplification enrolled in the European Unresectable Neuroblastoma (EUNB) protocol is still to be clarified, while, for other group of patients, the presence of SCAs is associated with poor prognosis. Methods: To understand the role of SCAs we performed multilocus/pangenomic analysis of 98 tumour samples from patients enrolled in the EUNB protocol. Results: Age at diagnosis was categorised into two groups using 18 months as the age cutoff. Significant difference in the presence of SCAs was seen in tumours of patients…

Cancer Researchmedicine.medical_specialtyPathologyMYCN AmplificationKaplan-Meier EstimateunresectableGastroenterologyDisease-Free Survivalsegmental chromosome alterationsNeuroblastomaneuroblastomaDDX1FISHaCGHOlder patientsPeripheral Nervous System NeoplasmsInternal medicineNeuroblastomaMYCNmedicineHumansMultiplex ligation-dependent probe amplificationGainChromosome AberrationsOncogene ProteinsComparative Genomic HybridizationN-Myc Proto-Oncogene Proteinbusiness.industrySignificant differenceGene AmplificationSegmental Chromosome abnormalitiesInfantNuclear ProteinsChromosomePrognosislocalisedmedicine.diseaseDoenças GenéticasMLPA3. Good healthPeripheralOncologyMycn amplificationClinical StudyHistopathologybusinessBritish Journal of Cancer
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Age-dependency of the prognostic impact of tumor genomics in localized resectable MYCN non-amplified neuroblastomas Report from the SIOPEN Biology Gr…

2018

BACKGROUND: Biology based treatment reduction, i.e. surgery alone also in case of not totally resected tumors, was advised in neuroblastoma patients with localized resectable disease without MYCN amplification. However, whether the genomic background of these tumors may influence outcome was unknown and therefore scrutinized in a meta-analysis comprising two prospective therapy studies and a ‘validation’ cohort. PATIENTS AND METHODS: Diagnostic samples were derived from 406 INSS stages 1/2A/2B tumors from three cohorts: LNESGI/II and COG. Genomic data were analyzed in two age groups (cut-off: 18 months) and quality controlled by the SIOPEN Biology Group. RESULTS: In both patient age groups …

NeuroblastomaTumor GenomicsMYCNDoenças Genéticas
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