title: Unique genomic profile associated with pediatric uveal melanoma.
abstract: OBJECTIVE
  To determine genetic features of a pediatric uveal melanoma in a 6-year-old girl by array-based comparative genomic hybridization (a-CGH) and assess prognosis, and to search for constitutional copy number variations (CNVs) encompassing oncosuppressor genes.
  
  
  METHODS
  High-resolution a-CGH was performed on genomic DNA from cancer cells and from peripheral blood cells. Histopathology and clinical staging of the tumor were simultaneously assessed.
  
  
  RESULTS
  Array-based CGH revealed no CNVs on tumor cells associated with poor prognosis; namely, no monosomy 3, losses of 1p, 6q, or 8p, and no gains of 8q. A unique genomic profile was observed, consisting mainly of partial terminal duplications affecting chromosomes 1, 4, 5, 9, 10, 11, 16, and 19, and complete trisomy of chromosomes 6, 7, and 20. The nonmetastatic tumor had predominantly epithelioid histology. No constitutional CNVs encompassing oncosuppressor genes were detected.
  
  
  CONCLUSIONS
  We report a very rare uveal melanoma characterized by low-risk genomic profile and poor prognostic histologic and clinical features. The child is relapse-free at 1-year follow-up. The unusual CNVs detected by a-CGH suggest specific pathogenic mechanisms.
authors: Maria Antonietta
authors: MA
authors: Blasi
authors: Daniela
authors: D
authors: Orteschi
authors: Monica M
authors: MM
authors: Pagliara
authors: Giulia
authors: G
authors: Coco
authors: Alessia
authors: A
authors: Asaro
authors: Antonino
authors: A
authors: Mulè
authors: Gianluigi
authors: G
authors: Petrone
authors: Marcella
authors: M
authors: Zollino
mesh_terms: D001918:Brachytherapy; D002648:Child; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D004247:DNA / Q000235:genetics; D056915:DNA Copy Number Variations; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D020869:Gene Expression Profiling; D023281:Genomics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008545:Melanoma / Q000175:diagnosis / Q000235:genetics* / Q000532:radiotherapy; D011379:Prognosis; D014604:Uveal Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000532:radiotherapy; D000098943:Uveal Melanoma
chemical_list: D004273:DNA, Neoplasm; D004247:DNA