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Cholangiocarcinoma: molecular pathways and therapeutic opportunities.
[cholangiocarcinoma]
Cholangiocarcinoma
(
CCA
)
is
an
aggressive
biliary
tract
malignancy
with
limited
treatment
options
and
low
survival
rates
.
Currently
,
there
are
no
curative
medical
therapies
for
CCA
.
Recent
advances
have
enhanced
our
understanding
of
the
genetic
basis
of
this
disease
,
and
elucidated
therapeutically
relevant
targets
.
Therapeutic
efforts
in
development
are
directed
at
several
key
pathways
due
to
genetic
aberrations
including
receptor
tyrosine
kinase
pathways
,
mutant
IDH
enzymes
,
the
PI
3
K
-AKT-mTOR
pathway
,
and
chromatin
remodeling
networks
.
A
highly
desmoplastic
,
hypovascular
stroma
is
characteristic
of
CCAs
and
recent
work
has
highlighted
the
importance
of
targeting
this
pathway
via
stromal
myofibroblast
depletion
.
Future
efforts
should
concentrate
on
combination
therapies
with
action
against
the
cancer
cell
and
the
surrounding
tumor
stroma
.
As
the
mutational
landscape
of
CCA
is
being
illuminated
,
molecular
profiling
of
patient
tumors
will
enable
identification
of
specific
mutations
and
the
opportunity
to
offer
directed
,
personalized
treatment
options
.
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