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Deletion of chromosome 20q in myelodysplasia can occur in a multipotent
precursor of both myeloid cells and B cells
NJ White, E Nacheva, FA Asimakopoulos, D Bloxham, B Paul and AR Green
Department of Haematology, University of Cambridge, UK.
Deletions of the long arm of chromosome 20 are associated with several
myeloid malignancies and, in particular, with myeloproliferative disorders
and myelodysplastic syndromes (MDS). Together with deletions of chromosome
5q and chromosome 7q, chromosome 20q deletions have previously been thought
to be restricted to myeloid cells in patients with MDS. We report here that
deletion of chromosome 20q in MDS can arise in a multipotent precursor of
both myeloid cells and B cells. Clonal Epstein-Barr virus (EBV)-transformed
cell lines, both with and without a 20q deletion, have been isolated from a
patient with MDS. Moreover, these cell lines have been shown to provide a
useful physical mapping tool and have been used to confirm the interstitial
nature of the 20q deletion. Microsatellite polymerase chain reaction (PCR)
and PCR analysis of PGK gene methylation have been used to study highly
purified populations of peripheral blood cells. The 20q deletion was
detectable by microsatellite PCR in peripheral blood granulocytes and
monocytes but not in B cells or T cells. Clonality of the different
lineages followed the same pattern as the 20q deletion. This represents the
first report in which a chromosome abnormality associated with MDS has been
immortalized in an EBV-transformed lymphoblastoid cell line. Furthermore,
our data show that patients with apparent myeloid restriction of a
chromosome deletion may in fact have a disease arising in a multipotent
cell with both myeloid and lymphoid potential.
Volume 83,
Issue 10,
pp. 2809-2816,
05/15/1994
Copyright © 1994 by The American Society of Hematology
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