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Title Caracterització clínico‐biològica de les síndromes mielodisplàstiques amb deleció 5q
Publication Date
Date Accessioned
Discipline/Department Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia
University/Publisher Universitat Autònoma de Barcelona
Abstract The thesis titled "Clinical and biological characterization of myelodysplastic syndromes with 5q deletion" is based on a compilation of three papers published in international journals in the field of hematology‐oncology. The main objective of this thesis is to go in depth to the genetic and clinical study of myelodysplastic syndromes (MDS) who have a deletion of the long arm of chromosome 5 (5q‐). The approach of this disease was made with molecular cytogenetic techniques. In the first paper, we studied by FISH more than 600 patients with MDS without 5q deletion by conventional cytogenetics. 5q deletion was detected in 6% of cases. It is noteworthy that in those cases in which no cytogenetic information was available, as the culture had no metaphases, 5q deletion was detected in 20% of cases. These results are important because there is a treatment that is highly effective in patients with this cytogenetic alteration. In the second study, we have analyzed the natural history of MDS with 5q deletion. We collected clinical and biological data of more than 500 patients with MDS and 5q deletion by conventional cytogenetics. This study allowed to define the impact, on survival and disease progression to acute myeloid leukemia, of the cytogenetic alterations accompanying the deletion 5q. This study has determined that the presence of a single cytogenetic abnormality accompanying the 5q deletion does not have a significant effect on overall survival but does have impact on disease progression in acute myeloid leukemia. The third work is based on the genetic study, using direct sequencing and genomic microarrays, and its correlation with lenalidomide treatment response. The importance of this work is that around 25% of patients do not respond to treatment with lenalidomide and the reason is unknown. This study has determined that the presence of an accompanying cytogenetic alteration is associated with a non‐response to treatment. In addition, the presence of mutations in the TP53 gene showed a tendency to not predict response to treatment. This thesis has allowed to a better clinical, biological and genetic characterization of MDS with deletion 5q, and have helped the scientific community to better understand the natural history of the disease.
Subjects/Keywords Deteccio tq; SMD; Microanays; Ciències Experimentals; 616.1
Contributors [email protected] (authoremail); true (authoremailshow); Solé Ristol, Francesc (director); Coll, M. D. (María Dolores) (director); true (authorsendemail)
Language cat
Rights ADVERTIMENT. L'accés als continguts d'aquesta tesi doctoral i la seva utilització ha de respectar els drets de la persona autora. Pot ser utilitzada per a consulta o estudi personal, així com en activitats o materials d'investigació i docència en els termes establerts a l'art. 32 del Text Refós de la Llei de Propietat Intel·lectual (RDL 1/1996). Per altres utilitzacions es requereix l'autorització prèvia i expressa de la persona autora. En qualsevol cas, en la utilització dels seus continguts caldrà indicar de forma clara el nom i cognoms de la persona autora i el títol de la tesi doctoral. No s'autoritza la seva reproducció o altres formes d'explotació efectuades amb finalitats de lucre ni la seva comunicació pública des d'un lloc aliè al servei TDX. Tampoc s'autoritza la presentació del seu contingut en una finestra o marc aliè a TDX (framing). Aquesta reserva de drets afecta tant als continguts de la tesi com als seus resums i índexs.
Country of Publication es
Record ID handle:10803/120174
Repository barcelona
Date Indexed 2019-12-30
Issued Date 2013-06-21 00:00:00

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