Genomic abnormalities detected by panel fluorescence in situ hybridization in chronic lymphocytic leukaemia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the value of panel fluorescence in situ hybridization for detection of genomic aberrations in chronic lymphocytic leukemia(CLL).</p><p><b>METHODS</b>Five types of fluorescein-labelled DNA probes including centromeric probes for chromosomes 3,12 and 18, and two sequence-specific probes D13S272 for 13q14.3 and ATM for 11q23 were used to perform fluorescence in situ hybridization (FISH) assays in 22 patients with CLL. Its results were compared with that of conventional cytogenetic (CC) examination in order to ascertain which method is more sensitive and reliable for the detection of chromosomal and genomic abnormalities in CLL.</p><p><b>RESULTS</b>On CC examination, only 8 cases (36.3%) were found to have chromosomal abnormalities including sole trisomy 12 in 3 cases, simultaneous trisomies 3 and 12 in one case, simultaneous trisomies 3, 12 and 18 in one case, translocation between chromosomes 5 and 15 in one case, deletion of 13q14.3 in one case, 3q- and 18p+ in one case, 4q+ and 13q- in one case, whereas on panel FISH assay, 15 cases (68.1%) were found to have genomic aberrations including trisomy 3 in 4 cases, trisomy 12 in 6 cases, trisomy 18 in one case, deletion of 13q14.3 in 8 cases, deletion of 11q23 in 6 cases.</p><p><b>CONCLUSION</b>Panel FISH is a useful method for detection of genomic aberration in CLL, if combined with CC, it can obviously enhance the detection rate of chromosomal abnormalities in CLL.</p>