title: CGH evaluation of two de novo synchronous tumors in a child with a germline p53 mutation.
abstract: We report the case of a child who developed two de novo synchronous tumors: an osteosarcoma and an embryonal rhabdomyosarcoma. The patient was determined to be a de novo carrier of a P53 germline mutation. Comparative genomic hybridization (CGH) analysis revealed that each of the neoplasms was characterized by a specific set of chromosomal imbalances and high-level amplification (HLA) regions. Our CGH findings provide evidence that cancer development is a cellular/organ specific event.
authors.affiliation: Cytogenetic Laboratory, CIPM, Portuguese Cancer Institute, Lisbon, Portugal. lroque@ipolisboa.min-saude.pt
authors.forename: Lúcia
authors.initials: L
authors.lastname: Roque
authors.forename: Ana
authors.initials: A
authors.lastname: Lacerda
authors.forename: Raquel
authors.initials: R
authors.lastname: Rodrigues
authors.forename: Odete
authors.initials: O
authors.lastname: Almeida
authors.forename: João
authors.initials: J
authors.lastname: Salgueiro
authors.forename: Carla
authors.initials: C
authors.lastname: Pinto
mesh_terms: D002648:Child; D005266:Femoral Neoplasms / Q000235:genetics*; D019942:Genes, p16; D016158:Genes, p53; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D009693:Nucleic Acid Hybridization / Q000379:methods*; D012516:Osteosarcoma / Q000235:genetics*; D012186:Retroperitoneal Neoplasms / Q000235:genetics*; D012208:Rhabdomyosarcoma / Q000235:genetics* / Q000556:secondary; D013736:Testicular Neoplasms / Q000473:pathology