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RESEARCH PRODUCT
MYCN gain and MYCN amplification in a stage 4S neuroblastoma.
María TassoRosa NogueraVictoria CastelAmparo RuizAntonio PellínSamuel NavarroAntonio Llombart-boschAdela Cañetesubject
Cancer ResearchAdrenal Gland NeoplasmsGenes mycDiseaseBiologymedicine.disease_causeNeuroblastomaFatal OutcomeNeuroblastomaGene duplicationGeneticsmedicineHumansneoplasmsMolecular BiologyNeoplasm StagingGeneticsMutationTransition (genetics)Gene AmplificationInfantmedicine.diseaseAneuploidyPrimary tumorChromosomes Human Pair 1Stage 4S NeuroblastomaCancer researchDisease ProgressionFemalePloidyChromosome DeletionChromosomes Human Pair 17description
Abstract Stage 4S neuroblastoma is a disease associated with spontaneous regression and good survival. We present a patient whose evolution has shown the variety and complexity of this disease in infants. Biologic factors, such as ploidy, MYCN copy number, loss of 1p36, and other chromosomal gains and losses were determined. A complex pattern of genetic abnormalities, such as near-diploidy, MYCN gain (2–4 copies per haploid genome) and imbalance/deletion of 1p36 was seen in the diagnostic sample. An extensive disseminated disease after a latent period of 26 months was associated with a special genetic evolution, such as tetraploidy, MYCN amplification (2:100–500 copies), 1p36 deletion, and gain of 17q. Our results provide evidence that either the primary tumor was heterogeneous in terms of gene amplification or that amplification was acquired later on as a transition from MYCN gain. We suggest that near–di-/tetraploid 4S tumors with MYCN gain and/or deletion 1p could be progressing 4S tumors.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2003-03-21 | Cancer genetics and cytogenetics |