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Monoclonal nature of transient abnormal myelopoiesis in Down's syndrome
H Kurahashi, J Hara, K Yumura-Yagi, N Murayama, M Inoue, S Ishihara, A Tawa, S Okada and K Kawa-Ha
Department of Pediatrics, Osaka University Hospital, Japan.
Neonates with Down's syndrome occasionally show an excess of blasts in
their peripheral blood. This disorder spontaneously resolves within several
months and is called transient abnormal myelopoiesis (TAM) or transient
myeloproliferative disorder. It has been uncertain whether the excess of
blasts in TAM is a result of a clonal proliferation or a polyclonal
reactive condition. The clonality of cells in females can be examined by
analysis of the methylation patterns of the X chromosomes of proliferating
cells using restriction fragment length polymorphism (RFLP). Using this
strategy, we studied three females with Down's syndrome accompanied by TAM
who showed heterozygosity in RFLP of either the hypoxanthine
phosphoribosyltransferase or phosphoglycerate kinase gene. Analysis of the
methylation patterns of these genes demonstrated a clonal nature for blasts
in three patients. Thus, TAM is a clonal proliferative disorder. In
addition, lymphocytes with a normal appearance contained in analyzed
samples from these patients also showed a monoclonal pattern, suggesting
that TAM may be a disorder of multipotent stem cells.
Volume 77,
Issue 6,
pp. 1161-1163,
03/15/1991
Copyright © 1991 by The American Society of Hematology
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