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The Autonomous University of Barcelona doctoral programme has awarded the extraordinary doctoral prize for the thesis Clinico-biological characterisation of myelodysplastic syndromes with 5q deletion presented in June 2013 by Dr. Mar Mallo, from the Catalan Institute for Oncology/Germans Trias i Pujol Campus of the Josep Carreras Leukaemia Research Institute.
The doctoral thesis, entitled, Clinico-biological characterisation of myelodysplastic syndromes with 5q deletion is based on a compilation of three works published in prestigious international journals in the field of oncohematology. The main purpose of the thesis is to delve deeper into the genetic and clinical aspects of those myelodysplastic syndromes (MDS) which have as a cytogenetic alteration the deletion of the long arm of the chromosome 5 (5q‐). Various techniques in molecular cytogenetics are used to tackle this pathology.
The first of the papers was a study of more than 600 patients diagnosed as having MDS without 5q deletion through fluorescence in situ hybridisation (FISH) techniques. 5q deletion was observed in 6% of cases. These results are important because highly effective treatments exist for patients who present this cytogenetic alteration.
The second paper is based on the study of the natural history of MDS with 5q deletion. The clinical and biological data of more than 500 patients were collated, making it possible to determine that the presence of a cytogenetic anomaly accompanied by 5q deletion does not have a significant effect on global survival rates but does have an impact on the progress of the disease into acute myeloid leukaemia.
The third paper was a genetic study of this disease by means of genome microarray studies and direct sequencing. The study was able to establish how the presence of an accompanying cytogenetic alteration is associated with non-response to treatment. Furthermore, the presence of mutations in the TP53 gene show a tendency to predict such a non-response to treatment.
This thesis has deepened our clinical, biological and genetic knowledge of MDS with 5q deletion and has helped the scientific community to understand the natural history of the disease a somewhat better.
