Chromosomal aberrations in chronic lymphocytic leukemia by interphase fluorescence in situ hybridization and their association with clinical features / 中国实验血液学杂志

ABSTRACT

This study was aimed to investigate the common chromosomal aberrations in chronic lymphocytic leukemia (CLL) and to explore the relationship between these chromosomal aberrations and clinical features of CLL. Sequence-specific DNA probes (D13S25, RB1, p53, ATM) and one centromeric probe CSP12 were applied to detect del(13q14), del(17p13), del(11q22-q23) and trisomy 12 by using interphase fluorescence in situ hybridization (I-FISH). 9 CLL patients with negative conventional cytogenetics or without mitotic figure were enrolled in this study. The threshold was established using 10 controls without hematopoietic malignancies. The results indicated that compared with the established threshold, all of the 9 CLL patients showed cytogenetic abnormalities. The detection using p53 and D13S25 showed positive in 7 cases, positive was observed in 5 cases by using ATM and in 4 cases by using both RB1 and CSP12. There was significant correlation between the ATM and the hemoglobin level of the patients. In addition, the elevated probability of gaining bulky lymphadenopathy was found in ATM positive patients. It is concluded that the I-FISH is a more rapid and sensitive technique for analysis of chromosome aberrations in CLL. A large series study with long-term follow-up is needed to reveal the role of cytogenetic abnormalities in the determination of CLL prognosis.