Jr. Sawyer et al., KARYOTYPE EVOLUTION IN A PATIENT WITH DOWN-SYNDROME AND ACUTE-LEUKEMIA FOLLOWING A CONGENITAL LEUKEMOID REACTION, Medical and pediatric oncology, 22(6), 1994, pp. 404-409
We report the serial cytogenetic study of a patient with Down syndrome
who experienced a congenital leukemoid reaction, underwent a spontane
ous remission within four months, and subsequently developed acute mye
loid leukemia at 16 months. A blood chromosome study to rule out Down
syndrome performed at age 24 days, during the leukemoid reaction, reve
aled a 47,XX,+21 karyotype. The diagnosis of acute leukemia was made a
t 16 months, at which time a chromosome study, on bone marrow, was per
formed. This analysis revealed a clonal karyotype of 47,XX,+21,-22,+de
r (22)t(1;22)(q21;q13) in all but one cell studied. The single apparen
tly nonclonal cell showed a karyotype of 49,XX,+12,-13,-19, +der(19)t(
19;?)(q11;?)x2,+21,+22. A third chromosome study at 19 months indicate
d the original leukemic clone with t(1;22) (q21;q13) had been replaced
by the clone represented by the single cell with 49 chromosomes seen
in the previous chromosome study. This case of an infant with Down syn
drome and acute leukemia illustrated rapid evolution and a transitory
nature to clonal chromosome aberrations while retaining AML morphology
and course. (C) 1994 Wiiey-Liss, Inc.