Detection of genomic abnormalities in chronic lymphocytic leukemia by fluorescence in situ hybridization / 中华检验医学杂志

ABSTRACT

Objective To investigate the value of panel fluorescence in situ hybridization (panel FISH)for detection of genomic aberrations in chronic lymphocytic leukemia(CLL). Methods Five types of fluorescein-labelled DNA probes including five sequence specific probes D13S25 for 13q14. 3, RB1, p53, ATM (11 q23)and centromeric probe for chromosome (CSP12) were used to perform fluorescence in situ hybridization assays in 17 patients with CLL. Its results were compared with that obtain by conventional cytogenetic (CC)examination. Results In 17 patients with CLL, CC examination showed that only one case (1/17) was found to have chromosomal abnormality that was simultaneous trisomies 3,8 and 18, whereas panel FISH assay showed that 10 cases (10/17) were found to have genomic aberrations including deletion of D13S25 in 4 cases,deletion of ATM in 2 cases,deletion of p53 in 1 case,deletion of D13S25 combined RB1 in 1 case and 1 case with a variety of abnormalities. Conclusions Panel FISH is a useful method for detection of genomic aberration in CLL If it is combined with CC,it can obviously enhance the detection rate of chromosomal abnormalities in CLL.