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A random Abstract
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Molecular diagnosis of intrahepatic cholangiocarcinoma.
[cholangiocarcinoma]
Intrahepatic
cholangiocarcinomas
(
iCCA
)
are
primary
intrahepatic
malignancies
originating
from
biliary
epithelia
.
While
both
hepatocellular
cancer
and
iCCA
can
present
as
mass
lesions
within
the
liver
,
these
cancers
are
distinct
in
their
morphology
,
etiology
,
pathology
,
natural
history
and
response
to
therapy
.
There
is
a
need
for
accurate
and
sensitive
molecular
markers
for
the
diagnosis
of
iCCA
.
Recent
advances
in
elucidating
molecular
and
genetic
characteristics
of
iCCA
offer
the
potential
of
molecular-based
diagnosis
of
iCCA
.
Specific
genetic
mutations
of
IDH
1
/
2
,
BAP
1
,
p
53
,
and
KRAS
,
FGFR
gene
fusions
and
alterations
in
microRNA
have
all
been
described
in
iCCA
.
Although
there
are
no
accurate
serum
or
biliary
biomarkers
currently
available
for
diagnosis
of
iCCA
,
several
potential
candidates
have
been
identified
.
Knowledge
of
specific
genetic
or
molecular
abnormalities
offers
potential
for
individualized
approaches
for
the
treatment
of
patients
with
iCCA
in
the
future
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated