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The use of fluorescence in situ hybridisation techniques in the diagnosis and prognosis of malignancy

Taylor, Clare Petronella Florence; (1995) The use of fluorescence in situ hybridisation techniques in the diagnosis and prognosis of malignancy. Doctoral thesis (Ph.D), UCL (University College London). Green open access

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Abstract

Specific and consistent genetic rearrangements have been found to be associated with particular tumours. The observation of these genetic changes highlights areas of the genome which may be involved in tumorigenesis, providing an opening for insights into the molecular mechanisms involved. The presence of a specific genetic aberration may also define the diagnosis in certain tumours, or may be associated with particular prognostic significance in others. Ewing's sarcoma and PNET are members of a group of childhood solid tumours which may be subject to diagnostic difficulty. These tumours are characterised by the presence of a t(11;22) translocation, and the detection of this in a tissue sample allows a firm diagnosis to be made, facilitating appropriate treatment. In this study fluorescence in situ hybridisation (FISH) has been carried out on interphase nuclei using probes flanking the translocation breakpoint on chromosome 22 to visualise the translocation. With proper controls and statistical analysis a test has been established which can be used routinely in the diagnosis of Ewing's sarcoma and PNET. The initial diagnosis of neuroblastoma is not usually difficult, but the natural history of the disease varies greatly depending on whether certain genetic alterations are present. Deletions of chromosome 1p, amplification of N-myc and a near-diploid or near-tetraploid karyotype are associated with a poor clinical outcome, while those with a triploid karyotype have a good prognosis. Knowledge of these genetic data may influence the choice of treatment. In this study FISH techniques have been modified for use on fresh tumour imprints to produce a rapid and reliable method of detecting each of these genetic changes. A large series of patients has been studied and the results correlated with those obtained using conventional methods. The technique is now being used routinely in some centres.

Type: Thesis (Doctoral)
Qualification: Ph.D
Title: The use of fluorescence in situ hybridisation techniques in the diagnosis and prognosis of malignancy
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Thesis digitised by ProQuest.
URI: https://discovery.ucl.ac.uk/id/eprint/10103488
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