Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"neoplasm"
symptom
adrenal incidentaloma
alexander disease
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial hypocalciuric hypercalcemia
focal myositis
hodgkin lymphoma, classical
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated