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CGH evaluation of two de novo synchronous tumors in a child with a germline p53 mutation
Author(s) -
Roque Lúcia,
Lacerda Ana,
Rodrigues Raquel,
Almeida Odete,
Salgueiro João,
Pinto Carla
Publication year - 2006
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20603
Subject(s) - germline , rhabdomyosarcoma , medicine , comparative genomic hybridization , cancer research , germline mutation , embryonal rhabdomyosarcoma , blood cancer , sarcoma , mutation , genetics , cancer , biology , pathology , gene , genome
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. Pediatr Blood Cancer © 2005 Wiley‐Liss, Inc.