Entwicklung einer computerlesbaren zytogenetischen Notation zur Detektion minimal rekurrenter Aberrationen bei Patienten mit hämatologischen Neoplasien

The results of cytogenetic analyses are documented according to the ISCN. This nomenclature is not completely computerreadable. The analysis of great data collections with the often complex karyotypes of tumor patients is hampered by this fact. A simplified computerreadable cytogenetic notation (SCCN) and according analysis programms were developed. The qualitative and quantitative metainformation of the karyotypes was stored in two data arrays. The metaanalysis of the breakpoints and chromosomal imbalances takes place in separated programms. The results are presented in graphs and tables. The SCCN and software were tested using the data collection with karyotypes of 94 patients with acute lymphoblastic leukemia at initial diagnosis. These patients covered the t(9;22)(q34;q11) and additional aberrations The results of the metaanalysis of this database complied with the literature.