Metaphase and array comparative genomic hybridization: unique copy number changes and gene amplification of medulloblastomas in South America.
Cancer Genet Cytogenet
; 170(1): 40-7, 2006 Oct 01.
Article
en En
| MEDLINE
| ID: mdl-16965953
Tumors of the central nervous system are the second most frequent malignancy of childhood, accounting for the majority of cancer-related deaths in this age group. Among these tumors, medulloblastomas (MB) remain in need of further genomic characterization toward understanding of pathogenesis and outcome predictors. Eight pediatric embryonal brain tumors were analyzed: five MB (one being desmoplastic), one PNET, one medulloepithelioma, and one ependymoblastoma. Analyses identified genomic imbalances, including the gain of 16p and the nonsyntenic coamplification of MYCN and TERT loci. More detailed FISH analysis showed that coamplification of MYCN and TERT in one of the MBs manifested as dispersed nuclear speckling, consistent with the presence of double minute chromosomes. There was considerable cell-to-cell copy number heterogeneity present, but it was clear that both genes were amplified concordantly. The amplification of oncogenes seems to play an important role in the pathogenesis of MB, and the association between MYCN and TERT amplifications and poor prognosis has not been well recognized. The uncharacteristic pattern of genomic imbalances detected in MB tumors may be a reflection of the characteristics of these tumors occurring in South America.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neoplasias Cerebelosas
/
Amplificación de Genes
/
Meduloblastoma
/
Metafase
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child
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Child, preschool
/
Female
/
Humans
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Infant
/
Male
País/Región como asunto:
America do sul
Idioma:
En
Revista:
Cancer Genet Cytogenet
Año:
2006
Tipo del documento:
Article
País de afiliación:
Canadá
Pais de publicación:
Estados Unidos