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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
"high levels"
symptom
22q11.2 deletion syndrome
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aromatase deficiency
cadasil
canavan disease
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
kallmann syndrome
liposarcoma
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
scrub typhus
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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