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Autosomal monosomies among 24,262 consecutive cytogenetic studies: prevalence, chromosomal distribution and clinicopathologic correlates of sole abnormalities.
[monosomy 21]
Monosomal
karyotype
(
MK
)
has
recently
been
associated
with
poor
prognosis
in
acute
myeloid
leukemia
(
AML
)
,
myelodysplastic
syndromes
(
MDS
)
,
and
primary
myelofibrosis
(
PMF
)
.
The
objectives
of
the
current
study
were
to
describe
the
prevalence
and
spectrum
of
autosomal
monosomies
in
an
unselected
cohort
of
patients
with
known
or
suspected
hematologic
malignancies
.
Bone
marrow
cytogenetic
studies
(
24
,
262
)
were
performed
at
our
institution
between
1989
and
2009
.
An
abnormal
karyotype
was
demonstrated
in
6
,
565
cases
(
~
27
%
)
;
of
these
,
1
,
365
(
~
21
%
)
included
autosomal
monosomies
that
occurred
as
sole
(
n
=
133
;
~
10
%
)
,
part
of
two
(
n
=
82
;
~
6
%
)
or
more
(
n
=
1
,
150
;
~
84
%
)
anomalies
.
All
22
autosomes
were
involved
,
but
monosomy
7
was
by
far
the
most
frequent
,
constituting
~
80
%
of
all
isolated
monosomies
and
the
highest
fraction
of
those
with
two
or
more
abnormalities
.
Other
recurrent
sole
monosomies
included
chromosomes
20
(
~
11
%
)
and
21
(
~
4
%
)
.
Monosomy
13
(
~
10
%
)
,
20
(
~
8
%
)
,
18
(
~
7
%
)
,
17
(
~
6
%
)
,
21
(
~
5
%
)
,
5
(
~
5
%
)
,
and
12
(
~
4
%
)
were
also
recurrent
in
the
setting
of
≥
2
abnormalities
.
Bone
marrow
histology
and
clinical
information
were
reviewed
in
all
cases
with
isolated
monosomy
;
associated
clinical
phenotypes
were
MDS
(
n
=
60
;
52
were
-
7
)
,
AML
(
n
=
32
;
31
were
-
7
)
,
myeloproliferative
neoplasms
(
n
=
16
;
10
were
-
7
)
,
chronic
myelomonocytic
leukemia
(
CMML
;
n
=
10
;
9
were
-
7
)
and
other
nonmyeloid
malignancies
(
n
=
15
;
4
were
-
7
)
.
Sole
monosomy
20
(
n
=
14
;
six
MDS
,
five
MPN
,
and
three
nonmyeloid
)
was
not
seen
in
AML
or
CMML
.
Sole
monosomy
21
was
more
frequent
in
nonmyeloid
as
opposed
to
myeloid
cases
.
Diseases
Validation
Diseases presenting
"suspected hematologic malignancies. bone marrow cytogenetic studies"
symptom
monosomy 21
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