Evaluation of the utility of peripheral blood vs bone marrow in karyotype and fluorescence in situ hybridization for myelodysplastic syndrome diagnosis

Abstract

Objective: To clear the role of peripheral blood as a substitution for bone marrow in myelodysplastic syndrome and to evaluate the concordance between peripheral blood and bone marrow using karyotype and fluorescence in situ hybridization (FISH) methods. Methods: We examined 35 bone marrow (BM) and peripheral blood (PB) samples from myelodysplastic syndrome (MDS) patient using karyotype and FISH. Karyotype method for BM and PB samples performed using the standard protocol with an exception for peripheral blood in which growth factor for cultivation was not used. FISH testing was performed using a panel of MDS-associated probes to detect 20q12, 20qter, 5q31, 5q33, 5p15 and chromosome 7 and 8 centromeres. Results: Our results showed karyotypes of BM and PB are concordant in 74% of cases, while about 53% of these concordances were achieved from cases with normal karyotypes. However, the results of BM FISH were completely concordant with PB FISH. Conclusion: Although peripheral blood karyotype is not trustworthy for MDS diagnosis, examining peripheral blood, using the FISH method, could be useful for clinical monitoring.