Rare Diseases Symptoms Automatic Extraction
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Genome-wide single nucleotide polymorphism array analysis reveals recurrent genomic alterations associated with histopathologic features in intrahepatic cholangiocarcinoma.
[cholangiocarcinoma]
Recent
studies
indicate
that
genomic
alterations
(
GAs
)
are
associated
with
many
human
malignancies
.
Genome-
wide
analysis
of
GAs
involved
in
intrahepatic
cholangiocarcinoma
(
ICC
)
and
association
with
histopathologic
features
are
limited
.
To
help
characterize
this
relatively
rare
neoplasm
,
we
collected
32
frozen
tissue
samples
of
ICC
to
study
GAs
and
molecular
karyotypes
by
using
single
-nucleotide
polymorphism
array
.
Recurrent
GAs
occurring
in
at
least
40
%
of
the
patients
were
further
correlated
with
histopathologic
features
.
Gain
of
1
q
21
.
3
-
q
23
.
1
and
losses
of
1
p
36
.
33
-
p
35
.
3
and
3
p
26
.
3
-
p
13
were
significantly
associated
with
larger
tumor
size
more
than
5
cm
in
diameter
;
and
loss
of
4
q
13
.
2
-
q
35
.
2
with
tumor
multiplicity
.
Moreover
,
losses
of
1
p
36
.
32
-
p
35
.
3
,
3
p
26
.
3
-
p
22
.
2
,
4
q
13
.
1
-
q
21
.
23
,
4
q
31
.
3
-
q
34
.
3
and
4
q
34
.
3
-
35
.
2
were
inclined
to
be
associated
with
high
histological
grade
.
As
to
tumor
vascular
invasion
,
gain
of
1
q
21
.
3
-
q
23
.
1
and
losses
of
3
p
22
.
1
-
p
12
.
3
and
4
q
13
.
2
-
q
35
.
2
were
significantly
associated
with
tumor
vascular
invasion
.
Some
regions
were
concurrently
associated
with
multiple
histopathologic
characteristics
,
including
loss
of
4
q
13
.
2
-
q
35
.
2
associated
with
larger
tumor
size
,
high
histological
grade
and
vascular
invasion
;
losses
of
1
p
36
.
33
-
p
35
.
3
and
3
p
26
.
3
-
p
22
.
2
with
larger
tumor
size
and
high
histological
grade
;
and
gain
of
1
q
21
.
3
-
q
23
.
1
with
larger
tumor
size
and
vascular
invasion
.
Our
study
indicates
that
complex
chromosomal
instability
is
characteristic
of
ICC
.
Detecting
crucial
GAs
will
enable
risk
stratification
and
development
of
personalized
therapies
.
Diseases
Validation
Diseases presenting
"losses of 1p36.32-p35.3, 3p26.3-p22.2, 4q13.1-q21.23, 4q31.3-q34.3 and 4q34.3"
symptom
cholangiocarcinoma
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