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Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia.
[monosomy 21]
Several
studies
have
demonstrated
the
prognostic
value
of
cytogenetic
analysis
in
MDS
both
for
survival
and
progression
to
AML
.
However
it
is
unknown
which
are
the
numerical
or
structural
abnormalities
required
for
leukemic
transformation
.
In
this
report
we
studied
clinically
and
cytogenetically
127
patients
:
125
with
primary
MDS
and
two
with
AML
with
a
previous
history
of
MDS
.
Thirty
-
one
patients
(
24
%
)
showed
evolution
of
the
disease
during
the
follow-up
study
.
Chromosomal
abnormalities
found
at
diagnosis
in
patients
that
progressed
toward
AML
included
:
del
(
5
)
(
q
15
)
,
+
6
,
del
(
6
)
(
q
21
)
,
t
(
5
;
8
)
(
q
32
;
q
22
)
,
-
7
,
del
(
7
)
(
q
22
)
,
der
(
7
)
t
(
1
;
7
)
(
q
10
;
p
10
)
,
t
(
7
;
11
)
(
p
15
;
p
15
)
,
+
8
,
del
(
11
)
(
q
23
)
,
del
(
12
p
)
,
del
(
3
)
(
q
21
)
,
del
(
20
)
(
q
12
)
and
complex
karyotypes
.
Eight
of
these
patients
were
studied
cytogenetically
during
transformation
and
showed
acquisition
of
chromosomal
alterations
involving
dup
(
1
q
)
,
+
8
,
del
(
11
)
(
q
23
)
,
and
translocations
between
chromosomes
1
and
8
or
7
and
17
.
In
addition
we
also
observed
gain
of
ploidy
and
monosomy
21
.
These
results
suggest
that
chromosomal
alterations
during
evolution
of
the
disease
include
special
chromosome
gains
or
abnormalities
of
chromosomes
1
,
7
,
8
,
11
and
17
with
involvement
of
ETV-
1
,
Hox-
A
9
,
Pax
4
,
MLL
genes
besides
a
putative
gene
mapped
at
17
q
25
.
We
also
applied
the
International
Prognostic
Scoring
System
(
IPSS
)
to
114
patients
,
excluding
those
submitted
to
allogeneic
bone
marrow
transplant
.
Our
patients
were
classified
into
four
distinct
risk
groups
.
The
analysis
of
risk
groups
presented
by
27
patients
who
showed
evolution
of
the
disease
revealed
18
at
the
high
risk
group
and
four
at
the
intermediate-
2
group
.
From
the
intermediate-
1
risk
group
only
five
patients
showed
evolution
of
the
disease
.
Three
of
these
patients
evolved
from
RA
to
RAEB
with
gain
of
a
del
(
11
)
(
q
23
)
or
an
expansion
of
a
del
(
12
)
(
p
12
)
clone
.
Our
results
suggest
that
some
chromosomal
alterations
are
responsible
for
each
step
in
the
evolution
of
the
disease
.
As
the
pathway
of
evolution
is
not
unique
it
has
been
very
difficult
to
define
what
genetic
alteration
comes
first
.
However
from
several
results
in
the
literature
and
our
own
,
it
seems
that
some
chromosomal
alterations
may
predict
the
evolution
of
the
disease
and
are
correlated
with
short
survival
,
as
for
example
the
trisomy
of
chromosome
8
,
and
might
be
incorporated
in
the
high
risk
group
in
the
IPSS
.
This
score
system
has
been
proved
to
be
useful
for
predicting
survival
and
evolution
from
MDS
to
AML
.
Diseases
Validation
Diseases presenting
"abnormalities of chromosomes"
symptom
monosomy 21
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