The Usefulness of Fluorescence In Situ Hybridization in the Diagnosis of Myelodysplastic Syndromes
B Kwok, S Loghavi, J Hussong, R Alsabeh. Cedars-Sinai Medical Center, Los Angeles, CA
Background: The usefulness of fluorescence in situ hybridization (FISH) in the diagnosis and management of myelodysplastic syndromes (MDS) is controversial. The aim of this study was to compare the utility of FISH and its ability to detect chromosome aberrations in MDS in comparison to classic karyotyping using a database of patients diagnosed with MDS at Cedars-Sinai Medical Center, Los Angeles.
Design: The study was carried out in a group of 61 patients with MDS. Karyotyping was performed on 46 of 61 bone marrow aspirations from these patients and FISH with a panel of four molecular probes for aberrations with prognostic significance in MDS (5q-, 7q-, 20q-, and trisomy 8) was performed on 43 patients. 20 of these cases had simultaneous karyotyping and FISH.
Results: Classic karyotyping allowed the detection of chromosome aberrations in 23 (50%) subjects with 20 (43%) showing 5q-, 7q-, 20q-, and/or trisomy 8. FISH revealed 31 (72.1%) cases with at least one of these four chromosomal abnormalities. Among the 20 cases which had both karyotyping and FISH, 9 (45%) cases had similar results demonstrated by both tests. In 8 (40%) cases FISH was able to detect one of the four prognostically significant chromosomal abnormalities which were not detected by classic karyotyping.
Conclusions: The use of an MDS probe panel by FISH in addition to classic karyotyping improves the detection of prognostically significant chromosome aberrations. We propose that both methods should be used simultaneously in every MDS patient if possible.
Tuesday, March 23, 2010 1:00 PM
Poster Session IV # 174, Tuesday Afternoon