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p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
[von hippel-lindau disease]
Von
Hippel-
Lindau
(
VHL
)
disease
is
an
autosomal
dominant
familial
cancer
syndrome
.
VHL
is
characterized
by
the
development
of
renal
cell
carcinoma
(
RCC
)
,
hemangioblastomas
of
the
central
nervous
system
or
retina
and
pheochromocytoma
(
PCC
)
.
RCC
and
PCC
are
known
to
be
caused
by
germline
mutations
of
six
and
ten
genes
,
respectively
.
In
the
present
study
,
30
individuals
from
two
unrelated
pedigrees
with
type
2
A
and
2
C
VHL
syndrome
were
investigated
.
The
patients
were
clinically
examined
and
treated
by
radical
nephrectomy
[
or
nephron‑sparing
surgery
(
NSS
)
]
and
cortical
-sparing
adrenalectomy
(
CSA
)
,
and
all
members
of
the
two
families
underwent
genetic
screening
.
Two
members
from
the
first
family
were
diagnosed
with
PCC
and
RCC
,
and
three
individuals
from
the
second
family
who
had
only
hypertension
were
diagnosed
with
PCC
.
Heterozygous
variants
of
the
VHL
gene
,
c
.
A
233
G
(
p
.
N
78
S
)
within
exon
1
and
c
.
G
482
A
(
p
.
R
161
Q
)
within
exon
3
,
were
verified
,
respectively
.
Surgery
was
performed
on
all
the
patients
,
with
the
exception
of
an
asymptomatic
5
-
year
-old
p
.
N
78
S
male
in
family
1
,
in
addition
to
genetic
testing
and
genetic
counseling
.
Further
patient
follow-up
was
warranted
with
regard
to
blood
pressure
and
health
,
although
normal
blood
pressure
and
no
local
recurrence
and
distant
metastasis
of
VHL
were
observed
previously
.
The
present
study
suggests
that
molecular
genetic
testing
may
aid
the
diagnosis
and
clinical
management
of
VHL
syndrome
.
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
