Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy.
[dedifferentiated liposarcoma]
Soft
tissue
sarcomas
(
STS
)
are
heterogeneous
mesenchymal
tumors
with
diverse
subtypes
.
STS
can
be
classified
into
two
main
categories
according
to
the
type
of
genomic
alteration
:
recurrent
translocation
driven
STS
,
and
non-
recurrent
translocations
.
However
,
little
has
known
about
acquired
uniparental
disomy
in
STS
.
In
this
study
,
we
analyzed
SNP
microarray
data
to
determine
the
frequency
and
distribution
patterns
of
acquired
uniparental
disomy
(
aUPD
)
in
major
soft
tissue
sarcoma
(
STS
)
subtypes
using
CNAG
and
R
softwares
.
We
identified
recurrent
aUPD
regions
specific
to
alveolar
rhabdomyosarcoma
with
the
most
frequent
at
11
p
15
.
4
,
gastrointestinal
stromal
tumor
at
1
p
36
.
11
-
p
35
.
3
,
leiomyosarcoma
at
17
p
13
.
3
-
p
13
.
1
,
myxofibrosarcoma
at
1
p
35
.
1
-
p
34
.
2
and
16
q
23
.
3
-
q
24
.
1
,
and
pleomorphic
liposarcoma
at
13
q
13
.
2
-
q
13
.
3
and
13
q
14
.
11
-
q
14
.
2
.
In
contrast
,
specific
recurrent
aUPD
regions
were
not
identified
in
dedifferentiated
liposarcoma
,
Ewing
sarcoma
,
myxoid
/
round
cell
liposarcoma
,
and
synovial
sarcoma
.
Strikingly
total
,
centromeric
and
segmental
aUPD
regions
are
more
frequent
in
STS
that
do
not
exhibit
recurrent
translocation
events
.
Our
study
yields
a
detailed
map
of
aUPD
across
9
diverse
STS
subtypes
and
suggests
the
potential
location
of
several
novel
tumor
suppressor
genes
and
oncogenes
.
Diseases
Validation
Diseases presenting
"ewing sarcoma"
symptom
dedifferentiated liposarcoma
liposarcoma
pleomorphic liposarcoma
well-differentiated liposarcoma
werner syndrome
This symptom has already been validated