Rare Diseases Symptoms Automatic Extraction
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Vitamin D receptor is highly expressed in precancerous lesions and esophageal adenocarcinoma with significant sex difference.
[esophageal adenocarcinoma]
Bile
acid
reflux
into
the
esophagus
is
important
in
the
development
of
esophageal
adenocarcinoma
(
EAC
)
.
Recently
,
vitamin
D
receptor
(
VDR
)
was
recognized
as
a
bile
acid
receptor
as
well
as
a
vitamin
receptor
.
Expression
of
VDR
is
reported
to
influence
the
development
of
various
types
of
cancer
,
such
as
those
of
the
breast
,
liver
,
and
colon
.
However
,
little
is
known
about
the
role
of
VDR
in
esophageal
neoplasms
.
We
investigated
the
clinicopathological
role
of
VDR
in
esophageal
tumors
.
We
analyzed
genomic
DNA
from
116
EACs
for
copy
number
aberrations
.
The
VDR
locus
was
amplified
in
7
%
of
EACs
.
Expression
of
the
VDR
protein
was
also
detected
by
immunohistochemistry
from
tissue
microarrays
created
from
tissues
of
Barrett
esophagus
(
BE
)
,
low
-grade
(
LGD
)
and
high
-grade
dysplasia
(
HGD
)
,
columnar
cell
metaplasia
(
CCM
)
,
squamous
epithelium
(
SE
)
,
EAC
,
and
esophageal
squamous
cell
carcinoma
(
ESCC
)
.
The
protein
was
highly
expressed
in
88
%
of
CCM
(
58
/
66
)
,
95
%
of
BE
(
35
/
37
)
,
100
%
of
the
19
LGD
,
94
%
of
HGD
(
15
/
16
)
,
and
79
%
of
EAC
(
86
/
109
)
,
but
expression
in
SE
and
ESCC
was
rare
.
Female
patients
with
EAC
and
CCM
were
significantly
less
likely
to
have
high
VDR
expression
than
male
patients
.
The
overall
survival
rate
was
significantly
different
for
patients
with
tumors
exhibiting
VDR
amplification
versus
nonamplification
.
Our
findings
suggest
that
VDR
plays
a
role
in
the
early
development
of
EAC
through
a
bile
acid
ligand
.
The
sex
difference
in
VDR
expression
may
help
to
explain
why
men
have
a
high
incidence
of
EAC
.
Diseases
Validation
Diseases presenting
"squamous cell carcinoma"
symptom
carcinoma of the gallbladder
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
junctional epidermolysis bullosa
kallmann syndrome
kindler syndrome
liposarcoma
monosomy 21
oculocutaneous albinism
oral submucous fibrosis
papillon-lefèvre syndrome
This symptom has already been validated