Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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Gewählte Publikation:

Terracciano, LM; Bernasconi, B; Ruck, P; Stallmach, T; Briner, J; Sauter, G; Moch, H; Vecchione, R; Pollice, L; Pettinato, G; Gürtl, B; Ratschek, M; De Krijger, R; Tornillo, L; Bruder, E.
Comparative genomic hybridization analysis of hepatoblastoma reveals high frequency of X-chromosome gains and similarities between epithelial and stromal components.
Hum Pathol. 2003; 34(9): 864-871.
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Autor/innen der Med Uni Graz:
Gürtl-Lackner Barbara
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Abstract:
Hepatoblastoma (HB) is the most common liver tumor in childhood and differs in its environmental risk factors and genetic background from hepatocellular carcinoma. HB is associated with inherited conditions such as familial adenomatous polyposis and Beckwith-Wiedemann syndrome, suggesting the importance of genetic abnormalities in the pathogenesis and progression of this disease. It has a very polymorphous morphology. A diverse range of cytogenetic alterations has been reported to date, the most frequent being trisomy 2 and trisomy 20. Thirty-five HB specimens from 31 patients (22 purely epithelial, 4 purely mesenchymal, 9 mixed) were examined by comparative genomic hybridization (CGH), a technique that enables us to screen the entire tumor genome for genetic losses and gains. Our aims were as follows: (1) to characterize chromosome abnormalities that appear in this tumor and (2) to identify possible differences between different histologic subtypes of HB. We found significant gains of genetic material, with very little difference in the number and type of alterations between the different histologic components of HB. The most frequent alterations were gains of Xp (15 cases, 43%) and Xq (21 cases, 60%). This finding was also confirmed by fluorescent in situ hybridization performed on nuclei extracted from 6 specimens. Other common alterations were 1p-, 2q+, 2q-, 4q-, and 4q+. We found no difference between different histologic subtypes, a finding that may be in agreement with the hypothesis of a common clonal origin for the different components. An hitherto-unreported high frequency of X chromosome gains may support the assumption that X-linked genes are involved in the development of this neoplasm.
Find related publications in this database (using NLM MeSH Indexing)
Cell Nucleus - genetics Cell Nucleus - pathology
Child -
Child, Preschool -
Chromosome Aberrations -
Chromosome Banding -
Chromosomes, Human, X -
DNA, Neoplasm - genetics
Epithelial Cells - pathology
Female -
Hepatoblastoma - genetics Hepatoblastoma - pathology
Humans -
In Situ Hybridization, Fluorescence -
Infant -
Infant, Newborn -
Liver Neoplasms - genetics Liver Neoplasms - pathology
Male -
Nucleic Acid Hybridization -
Stromal Cells - pathology

Find related publications in this database (Keywords)
hepatoblastoma
pediatric tumors
liver
cytogenetics
CGH
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