CGH evaluation of two de novo synchronous tumors in a child with a germline p53 mutation.
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.
Roque
Lúcia
L
Cytogenetic Laboratory, CIPM, Portuguese Cancer Institute, Lisbon, Portugal. lroque@ipolisboa.min-saude.pt
Lacerda
Ana
A
Rodrigues
Raquel
R
Almeida
Odete
O
Salgueiro
João
J
Pinto
Carla
C
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