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von Hippel Lindau disease with colon adenocarcinoma, renal cell carcinoma and adrenal pheochromocytoma.
[von hippel-lindau disease]
von
Hippel-
Lindau
(
VHL
)
disease
is
an
autosomal
dominant
inherited
tumor
syndrome
characterized
by
the
presence
of
heterogeneous
tumors
derived
from
different
organs
.
VHL
is
caused
by
germline
mutations
in
the
VHL
tumor
suppressor
gene
located
on
chromosome
3
p
25
-
26
.
The
loss
of
functional
VHL
protein
contributes
to
tumorigenesis
.
VHL
tumors
are
most
frequently
derived
from
the
kidneys
,
adrenal
gland
,
central
nervous
system
,
eyes
,
inner
ear
,
epididymis
and
pancreas
.
We
herein
describe
the
case
of
a
64
-
year
-old
man
carrying
the
VHL
gene
mutation
affected
by
simultaneous
colon
adenocarcinoma
,
renal
clear
cell
carcinoma
and
adrenal
pheochromocytoma
.
Diseases
Validation
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"central nervous system"
symptom
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phenylketonuria
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x-linked adrenoleukodystrophy
zellweger syndrome
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