Rare Diseases Symptoms Automatic Extraction
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STAT6 is amplified in a subset of dedifferentiated liposarcoma.
[dedifferentiated liposarcoma]
A
recurrent
intrachromosomal
rearrangement
on
chromosome
12
q
in
solitary
fibrous
tumor
leads
to
the
formation
of
a
NAB
2
-
STAT
6
fusion
oncogene
.
As
a
result
,
nuclear
expression
of
the
cytoplasmic
transcription
factor
STAT
6
is
found
in
solitary
fibrous
tumor
and
serves
as
a
useful
diagnostic
marker
.
STAT
6
is
located
in
12
q
13
,
a
region
containing
well-characterized
oncogenes
that
are
commonly
amplified
in
dedifferentiated
liposarcoma
;
we
have
previously
reported
that
STAT
6
is
expressed
in
a
subset
of
dedifferentiated
liposarcoma
.
The
aim
of
this
study
was
to
determine
the
frequency
of
STAT
6
expression
in
dedifferentiated
liposarcoma
and
the
underlying
genetic
mechanism
.
STAT
6
protein
expression
was
analyzed
by
immunohistochemistry
in
a
well-characterized
series
of
35
previously
unpublished
cases
of
dedifferentiated
liposarcoma
,
all
with
nuclear
MDM
2
and
/
or
CDK
4
expression
by
immunohistochemistry
and
/
or
cytogenetic
features
of
dedifferentiated
liposarcoma
.
FISH
for
STAT
6
was
performed
in
all
cases
with
STAT
6
expression
,
and
a
subset
of
control
cases
without
STAT
6
expression
.
In
total
4
/
35
cases
(
11
%
)
showed
STAT
6
expression
(
three
with
multifocal
staining
of
moderate
to
strong
intensity
and
one
with
weak
focal
staining
)
.
FISH
demonstrated
amplification
of
STAT
6
in
all
cases
positive
for
STAT
6
by
immunohistochemistry
;
in
contrast
,
FISH
performed
on
four
STAT
6
-
negative
dedifferentiated
liposarcomas
demonstrated
no
STAT
6
amplification
(
P
=
0
.
0286
)
.
Of
the
four
STAT
6
amplified
cases
,
three
patients
were
male
and
one
was
female
,
ranging
in
age
from
51
to
76
years
.
Tumors
were
located
in
the
mediastinum
(
n
=
2
)
,
paratesticular
soft
tissue
(
n
=
1
)
,
and
perirenal
soft
tissue
(
n
=
1
)
.
Three
patients
received
pre-operative
chemotherapy
+
/
-
radiation
therapy
.
In
conclusion
,
STAT
6
is
amplified
in
a
subset
of
dedifferentiated
liposarcoma
,
resulting
in
STAT
6
protein
expression
that
can
be
detected
by
immunohistochemistry
and
may
be
a
potential
pitfall
in
the
differential
diagnosis
of
dedifferentiated
liposarcoma
and
solitary
fibrous
tumor
.
These
findings
suggest
a
role
for
STAT
6
-
mediated
transcriptional
activity
in
some
cases
of
dedifferentiated
liposarcoma
and
highlight
the
genomic
complexity
and
heterogeneity
of
dedifferentiated
liposarcoma
.
Diseases
Validation
Diseases presenting
"liposarcoma"
symptom
dedifferentiated liposarcoma
erdheim-chester disease
focal myositis
gm1 gangliosidosis
liposarcoma
pleomorphic liposarcoma
well-differentiated liposarcoma
This symptom has already been validated
