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Molecular and cytogenetic investigations of genome aberrations in neuroblastomas
Thesis (MSc) -- University of Stellenbosch, 1996.
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| Format: | Thesis |
| Language: | English |
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Stellenbosch : Stellenbosch University
2012
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| _version_ | 1867613874261327872 |
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| access_status_str | Open Access |
| author | Du Plessis, Lana |
| author2 | Oosthuizen, C. J. J. |
| author_browse | Du Plessis, Lana Oosthuizen, C. J. J. |
| author_facet | Oosthuizen, C. J. J. Du Plessis, Lana |
| author_sort | Du Plessis, Lana |
| collection | Thesis |
| dc_rights_str_mv | Stellenbosch University |
| description | Thesis (MSc) -- University of Stellenbosch, 1996. |
| format | Thesis |
| id | oai:scholar.sun.ac.za:10019.1/50863 |
| institution | Stellenbosch University (South Africa) |
| language | English |
| last_indexed | 2026-06-10T12:43:03.527Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository |
| publishDate | 2012 |
| publishDateRange | 2012 |
| publishDateSort | 2012 |
| publisher | Stellenbosch : Stellenbosch University |
| publisherStr | Stellenbosch : Stellenbosch University |
| record_format | dspace |
| source_str | SUNScholar — Stellenbosch University Repository |
| spelling | oai:scholar.sun.ac.za:10019.1/50863 Molecular and cytogenetic investigations of genome aberrations in neuroblastomas Du Plessis, Lana Oosthuizen, C. J. J. Odendaal, H. J. Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Biomedical Sciences. Division of Molecular Biology & Human Genetics. Neuroblastoma Genomics Tumors in children -- Molecular aspects Human cytogenetics Dissertations -- Medicine Thesis (MSc) -- University of Stellenbosch, 1996. Neuroblastoma, is the most frequent occurring solid tumour in childhood It originates from the sympathetic nervous system and exhibits both clinical and biological heterogeneity The amplification of the oncogene MYCN, tumour ploidy and 1p deletion are genetic factors most abundantly associated with prognosis in Neuroblastoma We analyzed these factors in 23 formalin-fixed paraffin-embedded tumour samples from Neuroblastoma patients obtained from the Tygerberg Hospital Children's Tumour Registry. Analysis was performed on disaggregated interphase cells by using a combined immunocytochemical labelling and interphase fluorescence in situ hybridization (FISH) technique, for the respective discernment of tumour cells and analysis of the three separate genetic variables The NCL-NB84-antibody were directed against Neuroblastoma cells and the tumour cells that showed positivity for the NCL-NB84- antibody were assessed for tumour ploidy by dual FISH of a chromosome 2 and 6 centromeric probe. The assessment of tumour ploidy and 1p deletion in NCL-NB84 positive tumour cells were done by dual FISH of a chromosome 1 centromeric and 1p probe mapping to the consensus deletion region 1p36. MYCN amplification was assessed by hybridization of a MYCN specific probe to tumour cells Semi-quantification of MYCN copy numer was performed by differential polymerase chain reaction (PCR) of the MYCN and apolipoprotein B (ApoB) genes MYCN copy number could be estimated and co-amplification of the ApoB gene was observed in certain tumours Correlation was found with appearance of 1p deletion in diploid, tetraploid and certain triploid tumours in association with MYCN amplification MYCN amplification, co-amplification of (ApoB) and diploid or tetraploid tumours was significantly associated with poor outcome in an univariate statistical analysis. In a combined analysis, stage with tumour ploidy, MYCN amplification or ApoB co-amplification provided significant association with poor outcome. With the techniques employed in this study, we have laid the groundwork for diagnostic assistance to pathologists and oncologists by analysis of genetic variables occuring in aberrant clones of human tumours The prognostic potential of genetic variables can be ascertained by retrospective analysis of archival material from cancer patients. thereby aiding in more effective future diagnosis and treatment. We have established a rapid, reliable genetic test for confirmation of tumour ploidy status, 1p deletion and MYCN amplification in Neuroblastoma tumours. This genetic tests can contribute to the initial diagnosis and treatment of patients in need of intensive therapy. Masters 2012-08-27T11:34:12Z 2012-08-27T11:34:12Z 1996 Thesis http://hdl.handle.net/10019.1/50863 en Stellenbosch University 93 pages application/pdf Stellenbosch : Stellenbosch University |
| spellingShingle | Neuroblastoma Genomics Tumors in children -- Molecular aspects Human cytogenetics Dissertations -- Medicine Du Plessis, Lana Molecular and cytogenetic investigations of genome aberrations in neuroblastomas |
| title | Molecular and cytogenetic investigations of genome aberrations in neuroblastomas |
| title_full | Molecular and cytogenetic investigations of genome aberrations in neuroblastomas |
| title_fullStr | Molecular and cytogenetic investigations of genome aberrations in neuroblastomas |
| title_full_unstemmed | Molecular and cytogenetic investigations of genome aberrations in neuroblastomas |
| title_short | Molecular and cytogenetic investigations of genome aberrations in neuroblastomas |
| title_sort | molecular and cytogenetic investigations of genome aberrations in neuroblastomas |
| topic | Neuroblastoma Genomics Tumors in children -- Molecular aspects Human cytogenetics Dissertations -- Medicine |
| url | http://hdl.handle.net/10019.1/50863 |
| work_keys_str_mv | AT duplessislana molecularandcytogeneticinvestigationsofgenomeaberrationsinneuroblastomas |