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Title: Will a peripheral blood (PB) sample yield the same diagnostic and prognostic cytogenetic data as the concomitant bone marrow (BM) in myelodysplasia?
Authors: Cherry, Athena M ×
Slovak, Marilyn L
Campbell, Lynda J
Chun, Kathy
Eclache, Virginie
Haase, Detlef
Haferlach, Claudia
Hildebrandt, Barbara
Iqbal, Anwar M
Jhanwar, Suresh C
Ohyashiki, Kazuma
Sole, Francesc
Vandenberghe, Peter
Vandyke, Daniel L
Zhang, Yanming
Dewald, Gordon W #
Issue Date: Jul-2012
Publisher: Pergamon Press
Series Title: Leukemia Research vol:36 issue:7 pages:832-840
Abstract: In patients with myelodysplastic syndromes (MDS), chromosome anomalies are detected by conventional cytogenetic studies (CCS) and/or interphase fluorescence in situ hybridization (FISH) of bone marrow (BM) samples and provide prognostic and diagnostic information, which can direct therapy. Whether peripheral blood (PB) can be substituted for bone marrow in these cases and can provide the same information remains unknown. Concurrent BM and PB specimens collected from 100 patients with recently diagnosed MDS were studied using both CCS and FISH. While 68% of BM samples showed an abnormal karyotype by CCS, only 31% of PB samples were abnormal by CCS. In 12% of patients, FISH and CCS were discordant due to the inability of the FISH panel to detect all possible abnormalities. However, only one case (1%) had a cryptic abnormality detected by FISH. BM and PB FISH were discordant in 3% of cases, most likely due to the smaller clone size in PB vs. BM. While PB should not be substituted for BM at diagnosis, it is a viable alternative for monitoring patients using the appropriate FISH probe(s).
URI: 
ISSN: 0145-2126
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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