Detection of molecular cytogenetic abnormalities in 30 patients with chronic lymphocytic leukemia by fluorescence in situ hybridization / 中国实验血液学杂志

ABSTRACT

This study was aimed to investigate the significance of interphase fluorescence in situ hybridization (FISH) in detecting +12, del (13q14), p53 and atm gene deletion in chronic lymphocytic leukemia (CLL). FISH and a panel of probes (CEP 12, LSI D13S319, LSI p53, LSI atm) were used to detect molecular cytogenetic abnormalities in 30 patients with CLL. Cytogenetic aberrations and their relation with some other prognostic factors (peripheral lymphocyte count, Binet stage, LDH level, ZAP-70 and so on) were analyzed. The results indicated that out of the 30 CLL patients, molecular cytogenetic aberrations were found in 19 (63.3%) cases and 7 (23.3%) patients showed more than two kinds of abnormalities. The most frequent abnormality detected was del (13q14) (43.3%), followed by trisomy of chromosome 12 (23.3%), del (atm) (13.3%) and del (p53) (10.0%). There were no significant differences between molecular cytogenetic aberrations and sex, age, Binet stage, peripheral lymphocyte count, or the serum levels of lactate dehydrogenase (LDH), beta(2)-microglobulin (beta(2)-MG), or ZAP-70. The incidence of atm gene deletion was higher in the group of CD38 high expression than that in the group of low expression (p = 0.035). It is concluded that FISH is a rapid and sensitive technique in analysing molecular cytogenetic abnormalities, but its prognostic significance in CLL needs to further investigate.