title: MYCN gain and MYCN amplification in a stage 4S neuroblastoma.
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 a 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.
authors.affiliation: Deparment of Pathology, Medical School, University of Valencia, Avda. Blasco Ibañez, 17,46010 Valencia, Spain. rosa.noguera@uv.es
authors.forename: Rosa
authors.initials: R
authors.lastname: Noguera
authors.forename: Adela
authors.initials: A
authors.lastname: Cañete
authors.forename: Antonio
authors.initials: A
authors.lastname: Pellín
authors.forename: Amparo
authors.initials: A
authors.lastname: Ruiz
authors.forename: María
authors.initials: M
authors.lastname: Tasso
authors.forename: Samuel
authors.initials: S
authors.lastname: Navarro
authors.forename: Victoria
authors.initials: V
authors.lastname: Castel
authors.forename: Antonio
authors.initials: A
authors.lastname: Llombart-Bosch
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics* / Q000473:pathology; D000782:Aneuploidy; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005784:Gene Amplification; D016259:Genes, myc; D006801:Humans; D007223:Infant; D009367:Neoplasm Staging; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology