Applications of Fluorescence in Situ Hybridization (FISH) for Detecting Genetic Changes in Hematological Malignancies

摘要

Fluorescence in situ hybridization (FISH) has become an important tool both for defining initial chromosomal abnormalities within a disease process, and for monitoring response to therapy as well as minimal residual disease. We report the results of interphase FISH (iFISH) analysis of 92 patients. We have used five different FISH probes to detect common cytogenetic rearrangements associated with hematological malignancies. A total of 83 patients were screened for BCR/ABL gene rearrangements. Displayed iFISH patterns of BCR/ABL gene rearrangements in 37.3% of patients (31/83) ranged between 10% to 98%. In addition, while 3 patients and one patient with AML showed t(15; 17) (12.5%) and inv(16; 16) (8.3%) respectively, t(8; 21) was not found. Furthermore, secondary chromosomal aberrations (6.5% of all cases) were clearly non random in the present study. The diagnosis of BCR/ABL gene rearrangements are likely become an important tool for the monitoring of therapies in patients with CML. Atypical patterns also may have clinical prognostic implications. Further studies in larger groups of patients are needed in order to elucidate the role of AML1/ETO, PML/RARA, CBFB and p53, and to identify the specific chromosomal regions and interacting genes involved in this process.