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The significance of genetics for cholangiocarcinoma development.
[cholangiocarcinoma]
Cholangiocarcinoma
(
CCA
)
is
a
rare
malignancy
of
the
liver
,
arising
from
bile
ducts
.
The
incidence
is
increasing
worldwide
,
but
the
prognosis
has
remained
dismal
and
virtually
unchanged
in
the
past
30
years
.
Although
several
risk
factors
have
been
associated
with
the
development
of
this
cancer
,
none
of
them
are
normally
identified
in
most
patients
.
Diagnosis
in
advanced
stages
of
the
disease
and
limited
therapeutic
options
contribute
to
poor
survival
rates
.
The
recent
analysis
of
genetic
and
epigenetic
alterations
occurring
in
CCA
has
shed
new
light
in
the
understanding
of
the
molecular
mechanisms
leading
to
the
malignant
transformation
of
biliary
cells
.
Further
studies
in
this
direction
may
foster
new
diagnostic
,
prognostic
and
therapeutic
approaches
.
This
review
provides
a
global
overview
of
recent
advances
in
CCA
and
describes
the
most
important
genetic
mutations
and
epigenetic
alterations
so
far
reported
in
CCA
.
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