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Genetic changes observed in a case of adult pilocytic astrocytoma revealed by array CGH analysis
BACKGROUND: A palette of copy number changes in a case of adult pilocytic astrocytoma analyzed by Array Comparative Genomic Hybridization (aCGH) is presented. Pilocytic astrocytomas are specific gliomas that are benign and biologically distinct and the molecular mechanisms responsible for their deve...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4300045/ https://www.ncbi.nlm.nih.gov/pubmed/25606054 http://dx.doi.org/10.1186/s13039-014-0095-2 |
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author | Pećina-Šlaus, Nives Gotovac, Kristina Kafka, Anja Tomas, Davor Borovečki, Fran |
author_facet | Pećina-Šlaus, Nives Gotovac, Kristina Kafka, Anja Tomas, Davor Borovečki, Fran |
author_sort | Pećina-Šlaus, Nives |
collection | PubMed |
description | BACKGROUND: A palette of copy number changes in a case of adult pilocytic astrocytoma analyzed by Array Comparative Genomic Hybridization (aCGH) is presented. Pilocytic astrocytomas are specific gliomas that are benign and biologically distinct and the molecular mechanisms responsible for their development remain unexplained. The aCGH was performed using SurePrint G3 Human CGH microarrays 4 × 180 K (Agilent Technologies). To ascertain whether some of the aberrations were of constitutive nature, we also analyzed the blood sample from the same patient. RESULTS: The result of aCGH analysis demonstrated differences in the tumor tissue when compared to normal control on the array and also to autologous DNA from patient’s blood. The total number of aberrations found in our case was 41 including 37 deletions and 4 amplifications. Whole chromosomal gains and losses were not observed. Collectively, our results showed three deletions and one amplification at 1p, two deletions at 2q, two deletions at 4q, two deletion at 5q, two deletions at 7p and two deletions at 7q; there were also three deletions at 8q, one deletion at 9p, one deletion at 10p, three deletions and one amplification at 10q. Chromosome 11 showed two deletions at 11p, while there was one deletion at 12p and one at 12q. Four deletions at 14q; two deletions at 15q, one amplification at 17q and one deletion at 17q; one deletion at 18p, two deletions at 22q and finally one deletion at Xp and one deletion and one amplification at Xq. Among the signaling pathways, olfactory transduction, Fc gamma R-mediated phagocytosis and p53 signaling pathway showed significant enrichment ascertained by gene ontology (GO) analysis using the DAVID software. CONCLUSIONS: Our aCGH analysis is bringing subtle genomic alterations thus broadening genetic spectrum of adult pilocytic astrocytoma in order to offer new molecular biomarkers that will help in diagnostics and therapeutic decision-making. |
format | Online Article Text |
id | pubmed-4300045 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-43000452015-01-21 Genetic changes observed in a case of adult pilocytic astrocytoma revealed by array CGH analysis Pećina-Šlaus, Nives Gotovac, Kristina Kafka, Anja Tomas, Davor Borovečki, Fran Mol Cytogenet Case Report BACKGROUND: A palette of copy number changes in a case of adult pilocytic astrocytoma analyzed by Array Comparative Genomic Hybridization (aCGH) is presented. Pilocytic astrocytomas are specific gliomas that are benign and biologically distinct and the molecular mechanisms responsible for their development remain unexplained. The aCGH was performed using SurePrint G3 Human CGH microarrays 4 × 180 K (Agilent Technologies). To ascertain whether some of the aberrations were of constitutive nature, we also analyzed the blood sample from the same patient. RESULTS: The result of aCGH analysis demonstrated differences in the tumor tissue when compared to normal control on the array and also to autologous DNA from patient’s blood. The total number of aberrations found in our case was 41 including 37 deletions and 4 amplifications. Whole chromosomal gains and losses were not observed. Collectively, our results showed three deletions and one amplification at 1p, two deletions at 2q, two deletions at 4q, two deletion at 5q, two deletions at 7p and two deletions at 7q; there were also three deletions at 8q, one deletion at 9p, one deletion at 10p, three deletions and one amplification at 10q. Chromosome 11 showed two deletions at 11p, while there was one deletion at 12p and one at 12q. Four deletions at 14q; two deletions at 15q, one amplification at 17q and one deletion at 17q; one deletion at 18p, two deletions at 22q and finally one deletion at Xp and one deletion and one amplification at Xq. Among the signaling pathways, olfactory transduction, Fc gamma R-mediated phagocytosis and p53 signaling pathway showed significant enrichment ascertained by gene ontology (GO) analysis using the DAVID software. CONCLUSIONS: Our aCGH analysis is bringing subtle genomic alterations thus broadening genetic spectrum of adult pilocytic astrocytoma in order to offer new molecular biomarkers that will help in diagnostics and therapeutic decision-making. BioMed Central 2014-12-23 /pmc/articles/PMC4300045/ /pubmed/25606054 http://dx.doi.org/10.1186/s13039-014-0095-2 Text en © Pecina-Slaus et al.; licensee BioMed Central. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Pećina-Šlaus, Nives Gotovac, Kristina Kafka, Anja Tomas, Davor Borovečki, Fran Genetic changes observed in a case of adult pilocytic astrocytoma revealed by array CGH analysis |
title | Genetic changes observed in a case of adult pilocytic astrocytoma revealed by array CGH analysis |
title_full | Genetic changes observed in a case of adult pilocytic astrocytoma revealed by array CGH analysis |
title_fullStr | Genetic changes observed in a case of adult pilocytic astrocytoma revealed by array CGH analysis |
title_full_unstemmed | Genetic changes observed in a case of adult pilocytic astrocytoma revealed by array CGH analysis |
title_short | Genetic changes observed in a case of adult pilocytic astrocytoma revealed by array CGH analysis |
title_sort | genetic changes observed in a case of adult pilocytic astrocytoma revealed by array cgh analysis |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4300045/ https://www.ncbi.nlm.nih.gov/pubmed/25606054 http://dx.doi.org/10.1186/s13039-014-0095-2 |
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