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Transient leukemoid reaction and trisomy 21 mosaicism in a phenotypically
normal newborn
GM Brodeur, GV Dahl, DL Williams, RE Tipton and DK Kalwinsky
Transient leukemoid reactions that resemble acute leukemia have been well
described for infants with trisomy 21 (Down syndrome). We report a
phenotypically normal 3-day-old boy with hepatosplenomegaly, leukocytosis,
and circulating myeloblasts. On chromosome analysis, trisomy 21 was found
in all blood and bone marrow cells. However, only 4% of cultured skin
fibroblasts were trisomic and the other 96% were normal, thus indicating
mosaicism. Without treatment, the leukocyte count gradually returned to
normal and the organomegaly diminished. Subsequently, chromosome analysis
of blood and bone marrow disclosed a predominance of cells with a normal
karyotype. These findings suggest that mosaicism could be responsible for
the transient leukemoid reactions in some newborns--i.e., the trisomic
cells may temporarily gain a proliferative advantage over the normal cells,
perhaps by inhibiting their growth. Serial cytogenetic studies, as well as
chromosome analysis of more than one tissue, may help to distinguish
transient leukemoid reactions from acute leukemia in infants.
Volume 55,
Issue 4,
pp. 691-693,
04/01/1980
Copyright © 1980 by The American Society of Hematology
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