Title: Chromosomal Abnormalities Detected by Fluorescence in Situ Hybridization and Their Clinical Significance in Patients with Myelodysplastic Syndrome
Abstract: Objective: To investigate the sensitivity, specificity and clinical significance of the chromosomal abnormalities in patients with myelodysplastic syndrome(MDS).Methods: To test chromosomal abnormalities in the bone marrow cells of 45 patients with MDS by the CSF1R/D5S23, D5S721(5q33), EGR1/D5S23, D5S721(5q31), D7S486/CSP7(7q31), D7S522/CSP7(7q31),D20S108/CSP8(20q12/CSP8) combinational probes and to compare the results with the conventional cytogenetic analysis(CCA).Results: Chromosomal anomalies were detected in 26 of 45 patients(58%) by either FISH or CCA. Among the 26 patients, 9 were numerical chromosomal anomalies(34.6%), 13 were structural rearrangements(50%), and 4 were complex chromosomal abnormalities.3 trisomy 8(+8), 3 who had loss of long arm of chromosome 21(21q-), and 2 cases(2/45, 4.4%) associated without long arm of chromosome 7(7q-) were detected by CCA. Among the 8 patients with abnormalities of chromosome, 7(17.8%) were detected by FISH.There was statistically significant difference between the two groups(P=0.0441713). 5 patients were +8, 5 were 20q-, and 4 were 5q- that were detected by FISH. The probability of-7/7q- or complex chromosomal abnormalities transformed into leukemia was higher.Conclusions: Detection rates of MDS 5q-,-7/7q-,+8, 20q- abnormal karyotypes by combinational probes were higher than those of the results detected by the CCA. CCA combined with FISH technology could improve the detection rate which is helpful for the diagnosis,the treatment and the prognosis.
Publication Year: 2014
Publication Date: 2014-01-01
Language: en
Type: article
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