Search results for "Single nucleotide variants"

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Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

2021

Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has been analyzed. Array comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and pharmacogenetics approaches, respectively, have identified relevant copy number alterations (CNAs), single nucleotide variants (SNVs), and polymorphisms (SNPs) that were then combined into an integrated analysis. Spontaneously formed 3D tumoroids obtained from the recurrent mass have also been characterized. The results prove the power of combining C…

3D tumoroids; Array CGH; Clonal evolution; Neuroblastoma; Pharmacogenetics; Recurrent tumor; Single nucleotide variants; Whole exome sequencing; Child Preschool; Disease Progression; Drug Resistance Neoplasm; Fatal Outcome; Humans; Immunophenotyping; Neuroblastoma; Polymorphism Single Nucleotide; Comparative Genomic Hybridization; Whole Exome SequencingQH301-705.5Drug Resistanceclonal evolutionCase Report3D tumoroidsSingle-nucleotide polymorphismDiseaseComputational biologyBiologyMalignancyPolymorphism Single NucleotideSomatic evolution in cancerImmunophenotypingwhole exome sequencingNeuroblastomaFatal OutcomeNeuroblastomaExome SequencingmedicineHumansarray CGHrecurrent tumorPolymorphismBiology (General)ChildPreschoolExome sequencingTumorsComparative Genomic HybridizationSingle NucleotideGeneral Medicinemedicine.diseaseSingle nucleotide variantsDrug Resistance NeoplasmPharmacogeneticsChild PreschoolDisease ProgressionFarmacogenèticaNeoplasmPharmacogeneticsComparative genomic hybridization
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Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient

2021

Synchronous primary malignancies occur in a small proportion of head and neck squamous cell carcinoma (HNSCC) patients. Here, we analysed three synchronous primaries and a recurrence from one patient by comparing the genomic and transcriptomic profiles among the tumour samples and determining the recurrence origin. We found remarkable levels of heterogeneity among the primary tumours, and through the patterns of shared mutations, we traced the origin of the recurrence. Interestingly, the patient carried germline variants that might have predisposed him to carcinogenesis, together with a history of alcohol and tobacco consumption. The mutational signature analysis confirmed the impact of alc…

Male0301 basic medicineOncologyAlcohol exposuremedicine.disease_causeGermlineNeoplasms Multiple PrimaryTranscriptomeFatal Outcome0302 clinical medicineMedicineBiology (General)Immune cell infiltrationSpectroscopysynchronous multiple primary malignanciesSmokersimmune cell infiltrationGenomicsGeneral MedicineComputer Science Applicationswhole exome sequencing (WES)Chemistrysomatic single nucleotide variantsHead and Neck Neoplasms030220 oncology & carcinogenesismedicine.medical_specialtyrecurrent head and neck squamous cell carcinoma (HNSCC)Alcohol DrinkingQH301-705.5ArticleCatalysisInorganic Chemistry03 medical and health sciencesInternal medicineHumansPhysical and Theoretical ChemistryQD1-999Molecular BiologyAgedNeoplasm Stagingbusiness.industryGene Expression ProfilingOrganic ChemistryHead and neck cancerRNA sequencing (RNA-seq)medicine.diseaseHead and neck squamous-cell carcinoma030104 developmental biologygermline variantsMutationClinical valueNeoplasm Recurrence LocalbusinessCarcinogenesisInternational Journal of Molecular Sciences
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