Detection of common chromosome abnormalities in myelodysplastic syndrome with a panel fluorescence in situ hybridization / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the value of a panel fluorescence in situ hybridization (FISH) in the detection of common chromosome abnormalities in myelodysplastic syndrome (MDS).</p><p><b>METHODS</b>Twenty cases of MDS patients, whose karyotypes were unknown by the FISH examiner beforehand, were analyzed with a panel FISH using YAC248F5 (5q31), YAC938G5 (7q32), CEP8 and YAC 912C3 (20q12) probes to detect the frequently occurring chromosome abnormalities (-5/5q, -/7q-, +8, 20q-) in MDS. Then the results were compared to those of conventional cytogenetics (CC).</p><p><b>RESULTS</b>Among 20 cases, 13 cases were found to carry common chromosome abnormalities by panel FISH (trisomy 8, five cases; -5/5q-, one case; 20q-, five cases; 5q- accompanying 20q-, one case; complex abnormalities, one case). However, on CC examination, only five cases were found to have common chromosomal abnormalities (20q-, four cases; 5q- accompanying 20q-, one case). In addition, trisomy 21, marker chromosome and complex abnormalities comprising -5, -7 and marker chromosomes were seen in one case each, the rest were normal.</p><p><b>CONCLUSION</b>Panel FISH is a useful tool of molecular cytogenetics in the detection of common chromosome abnormalities in MDS.</p>