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Cytogenetic abnormalities during clinical, immunophenotypic, and molecular remission in pediatric acute lymphoblastic leukemia.
[monosomy 21]
The
significance
of
random
cytogenetic
abnormalities
detected
in
pediatric
acute
lymphoblastic
leukemia
(
ALL
)
during
remission
is
unknown
.
We
studied
10
of
72
consecutive
ALL
patients
who
developed
cytogenetic
abnormalities
during
clinical
remission
to
determine
their
effect
on
remission
status
.
The
cytogenetic
abnormalities
occurred
at
a
median
of
14
.
5
months
(
range
5
-
72
)
from
the
initial
diagnosis
.
Five
abnormalities
were
designated
as
clonal
(
monosomy
21
in
three
metaphases
and
64
approximately
69
,
XXY
in
three
metaphases
from
one
patient
at
different
times
,
and
del
(
20
)
(
q
12
q
13
)
in
three
metaphases
,
add
(
13
)
(
q
34
)
in
two
metaphases
,
and
?
del
(
19
)
(
p
11
)
in
two
metaphases
from
three
different
patients
)
.
Seven
abnormalities
were
previously
described
:
del
(
5
)
(
q
12
)
,
del
(
5
)
(
q
33
)
,
-
7
,
del
(
11
)
(
q
23
)
,
+
12
,
and
+
13
each
in
one
metaphase
,
and
del
(
20
)
(
q
12
q
13
)
in
three
metaphases
)
.
The
remaining
cytogenetic
abnormalities
were
nonclonal
and
random
.
Flow
cytometry
and
analysis
of
IgH
and
TcR
gene
rearrangements
showed
that
all
evaluable
patients
were
in
immunophenotypic
and
molecular
remission
,
respectively
.
Eight
patients
remain
in
clinical
and
molecular
remission
a
median
of
9
months
(
range
7
-
18
)
after
detecting
the
cytogenetic
abnormality
,
and
the
leukemia
in
two
patients
has
relapsed
.
During
remission
,
cytogenetic
abnormalities
may
not
be
a
harbinger
of
leukemia
relapse
in
pediatric
ALL
;
therefore
,
a
wait-and-see
approach
is
prudent
.
Diseases
Validation
Diseases presenting
"acute lymphoblastic leukemia"
symptom
classical phenylketonuria
cystinuria
hodgkin lymphoma, classical
monosomy 21
oculocutaneous albinism
pyomyositis
severe combined immunodeficiency
wiskott-aldrich syndrome
This symptom has already been validated