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Hypoxia-inducible factor signaling in pheochromocytoma: turning the rudder in the right direction.
[von hippel-lindau disease]
Many
solid
tumors
,
including
pheochromocytoma
(
PHEO
)
and
paraganglioma
(
PGL
)
,
are
characterized
by
a
(
pseudo
)
hypoxic
signature
.
(
Pseudo
)
hypoxia
has
been
shown
to
promote
both
tumor
progression
and
resistance
to
therapy
.
The
major
mediators
of
the
transcriptional
hypoxic
response
are
hypoxia-inducible
factors
(
HIFs
)
.
High
levels
of
HIFs
lead
to
transcription
of
hypoxia-responsive
genes
,
which
are
involved
in
tumorigenesis
.
PHEOs
and
PGLs
are
catecholamine-producing
tumors
arising
from
sympathetic-
or
parasympathetic-derived
chromaffin
tissue
.
In
recent
years
,
substantial
progress
has
been
made
in
understanding
the
metabolic
disturbances
present
in
PHEO
and
PGL
,
especially
because
of
the
identification
of
some
disease-
susceptibility
genes
.
To
date
,
fifteen
PHEO
and
PGL
susceptibility
genes
have
been
identified
.
Based
on
the
main
transcription
signatures
of
the
mutated
genes
,
PHEOs
and
PGLs
have
been
divided
into
two
clusters
,
pseudohypoxic
cluster
1
and
cluster
2
,
rich
in
kinase
receptor
signaling
and
protein
translation
pathways
.
Although
these
two
clusters
seem
to
show
distinct
signaling
pathways
,
recent
data
suggest
that
both
clusters
are
interconnected
by
HIF
signaling
as
the
important
driver
in
their
tumorigenesis
,
and
mutations
in
most
PHEO
and
PGL
susceptibility
genes
seem
to
affect
HIF-α
regulation
and
its
downstream
signaling
pathways
.
HIF
signaling
appears
to
play
an
important
role
in
the
development
and
growth
of
PHEOs
and
PGLs
,
which
could
suggest
new
therapeutic
approaches
for
the
treatment
of
these
tumors
.
Diseases
Validation
Diseases presenting
"including pheochromocytoma"
symptom
von hippel-lindau disease
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