CGH evaluation of two de novo synchronous tumors in a child with a germline p53 mutation | Zendy

Roque Lúcia | Zendy; Lacerda Ana | Zendy; Rodrigues Raquel | Zendy; Almeida Odete | Zendy; Salgueiro João | Zendy; Pinto Carla | Zendy

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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.

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