Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Systemic therapeutic strategies for GEP-NETS: what can we expect in the future?
[alpha-thalassemia]
Over
the
last
few
years
,
there
have
been
important
advances
in
the
understanding
of
the
molecular
biology
of
neuroendocrine
tumors
(
NETs
)
that
have
already
translated
into
relevant
advances
in
the
clinic
.
Several
studies
have
extensively
assessed
the
mutational
profile
of
NETs
,
and
have
shown
the
key
roles
that
angiogenesis
and
the
PI
3
K
-AKT-mTOR
pathway
play
in
the
pathogenesis
of
these
tumors
.
Recent
data
has
also
revealed
the
potential
relevance
of
transcription
factors
such
as
death
domain-associated
protein
,
x-linked
mental
retardation
,
and
α-thalassemia
syndrome
protein
or
ataxia
telangiectasia
-mutated
in
NETs
of
pancreatic
origin
.
This
fast
progress
is
leading
to
a
rapidly
increasing
number
of
new
agents
being
explored
in
the
field
of
NETs
.
However
,
and
despite
some
unquestionable
success
,
objective
remission
rates
remain
low
,
and
evidence
of
a
substantial
survival
impact
is
lacking
.
Thus
,
there
is
an
important
need
to
improve
our
ability
to
identify
patients
most
likely
to
benefit
from
specific
therapies
,
and
to
incorporate
biomarkers
in
the
management
of
NETs
.
In
addition
,
further
efforts
to
understand
mechanisms
of
escape
and
acquired
resistance
to
the
different
available
agents
is
of
utmost
importance
,
and
will
likely
require
performing
paired
tumor
biopsies
(
prior
and
after
treatment
)
or
sequential
sampling
of
surrogate
tissues
.
Combinations
of
approved
agents
with
new
agents
,
either
in
a
rational
or
biomarker-driven
manner
,
are
certainly
warranted
in
this
field
.
Likewise
,
sequential
strategies
to
modulate
and
compensate
for
escape
phenomenons
are
also
of
great
interest
.
It
should
also
be
noted
,
however
,
that
targeted
agents
are
not
innocuous
and
frequently
yield
toxicities
that
need
to
be
adequately
addressed
by
experienced
specialists
,
particularly
when
drug
combinations
are
considered
.
This
review
summarizes
the
salient
data
on
biomarker
and
new
agent
development
for
the
treatment
of
NETs
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated