The aim of our study in cooperation with COST projecBM0801 is to analyse chromosomal changes in complex karyotypes of patients with MDS and AML in detail using all molecular cytogenetic techniques which are available and to search for the new, so far non-described recurrent chromosomal changes. We wish to define the frequency and significance of these aberrations for disease progression and transformation of MDS into AML. As many rearrangements are cryptic and therefore their identification is possible by molecular-cytogenetic methods only, we will exploit modifications of FISH methods routinely used in our Center of Oncocytogenetics (FISH, I-FISH. mFISH, mBAND, CGH) and as the new approach we will start to use array CGH analyses. We will start pilot study with the specially designed chip for array CGH analyses of chromosome 5. We will also continue to search for rearrangments of MLL gene in myeloid malignancies to establish prognostic values in our cohort. We have very close co-operation with clin (en)
Zjistit nenáhodnost vstupu chromosomů do přestaveb a rekurenci zlomových míst. Identifikovat geny spolupůsobící při progresi malignity a geny v oblastech s delecemi, zejména na chromosomu 5. Definovat skupiny pacientů vhodné pro individuální léčbu.
Celogenomovou analýzou jsme u souboru nemocných s MDS/AML a komplexním karyotypem určili frekvenci rekurentních nebalancovaných aberací. Popsali jsme 375 zlomových míst lokalizovaných ve známých fragilních místech. Popsali jsme atypické delece 5q, které nezahrnovaly oblast CDR. Potvrdili jsme nestabilitu deletovaného chromosomu 5, který vstupuje do přestaveb s různými partnerskými chromosomy. (cs)
By whole-genome analysis we determined the frequency of recurrent unbalanced aberrations in patients with MDS/AML and complex karyotype. We described 375 breakpoints located at known fragile sites as well as atypical 5q deletions that did not include the CDR. We confirmed substantial instability of d chromosome 5, often entering other rearrangements with various partner chromosomes. (en)