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Campbell L.J.,Victorian Cancer Cytogenetics Service
Methods in Molecular Biology | Year: 2011

Like most cytogeneticists, I have been informed by well-meaning colleagues at regular intervals over the last couple of decades that cytogenetics is an old-fashioned science that will be superseded in the very near future by molecular biological techniques. Yet, my laboratory is busier than it has ever been, despite the introduction of quantitative polymerase chain reaction (PCR) to detect the common translocations and of array-based techniques to provide a more precise global view of the genome than conventional cytogenetics could ever achieve. The value of cytogenetic analysis, particularly of malignancies, lies in its ability to detect new and unsuspected abnormalities, at a sufficiently low power that the abnormalities can be analysed and interpreted without the need for sophisticated computer software. It is rather like a low flying aeroplane able to read the lie of the land and identify the major landmarks without being able to necessarily identify the types of trees or read the street signs. © 2011 Springer Science+Business Media, LLC.


McQuilten Z.K.,Monash University | Sundararajan V.,University of Melbourne | Andrianopoulos N.,Monash University | Curtis D.J.,Monash University | And 3 more authors.
Cancer | Year: 2015

BACKGROUND: Conflicting data exist about the impact of a monosomal karyotype (MK) on overall survival (OS) for patients with myelodysplastic syndromes (MDSs) and particularly for those with a complex karyotype (CK). This study was aimed at determining whether an MK is associated with OS independently of the number of cytogenetic abnormalities (CAs) in a population-based MDS cohort. METHODS: Cancer registry data on incident MDS cases were linked with cytogenetic data and hospital administrative data from 2000 to 2010 for the Australian state of Victoria. RESULTS: Between 2000 and 2010, 1404 incident MDS cases with cytogenetic results were identified. A CK, defined as 3 or more abnormalities, was present in 126 (9%). A very complex karyotype (vCK), defined as 5 or more abnormalities, was present in 95 (7%). An MK was associated with worse OS in the whole cohort (median 6 vs 39 months, P < 0.001) including those with a coexisting CK (6 vs 17 months, P < 0.001) or vCK (6 vs 9 months, P = 0.02). After adjustments for the number of CAs, an MK remained independently associated with OS, although its effect size decreased with increasing cytogenetic complexity (hazard ratio for an MK, 4.81; 95% confidence interval, 3.08-7.52; hazard ratio for the number of CAs, 1.22; 95% confidence interval, 1.15-1.30; and hazard ratio for the interaction between an MK and CAs, 0.83; 95% confidence interval, 0.77-0.89). CONCLUSIONS: These results support the clinical utility of an MK as an independent predictor of adverse outcomes for MDS patients, even among CK and vCK groups, although its prognostic effect decreases with increasing cytogenetic complexity. Cancer 2015;121:2892-2899. © 2015 American Cancer Society.


Campbell L.J.,Victorian Cancer Cytogenetics Service
Methods in Molecular Biology | Year: 2011

Cytogenetic methods have not changed greatly over the last 50 years since Nowell and Hungerford's description of the Philadelphia chromosome but the clinical utility of these methods has evolved dramatically. The multicentre clinical studies that have identified major clinical applications for cytogenetic analysis in different cancers and the development of in situ hybridization have contributed to an explosion in cytogenetic testing for cancer patients. © 2011 Springer Science+Business Media, LLC.


Campbell L.J.,Victorian Cancer Cytogenetics Service
Methods in Molecular Biology | Year: 2011

Use of appropriate methods to produce analysable metaphase spreads and high-quality fluorescence in situ hybridization (FISH) and array results is critical to successful cytogenetic analysis of haematological malignancies, but the analysis and reporting of the findings of these tests are equally important as it is the final report that clinicians rely upon to inform patient management. A methodical approach to reporting with the use of universally recognized nomenclature will ensure that the diagnostic and prognostic information is presented in a form that is interpretable by both clinicians and other cytogeneticists. © 2011 Springer Science+Business Media, LLC.


Campbell L.J.,Victorian Cancer Cytogenetics Service
Methods in Molecular Biology | Year: 2011

The introduction of JAK2 mutation testing has changed dramatically the diagnostic algorithms for myeloproliferative neoplasms (MPNs) but there is still a place for conventional cytogenetic analysis in the initial work-up of MPN cases, particularly as this group of myeloid disorders has been expanded to include chronic eosinophilic leukaemia and myeloid neoplasms with abnormalities of the PDGFRA, PDGFRB, and FGFR1 genes. Mastocytosis is also included under the umbrella of MPN but the cytogenetic abnormalities observed usually reflect any associated clonal haematological non-mast cell lineage disease. © 2011 Springer Science+Business Media, LLC.

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