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Peripheral hemangioblastoma: clinicopathologic characterization in a series of 22 cases.
[von hippel-lindau disease]
Hemangioblastoma
is
a
rare
tumor
of
uncertain
histotype
that
typically
arises
in
the
cerebellum
,
quite
often
in
the
setting
of
Von
Hippel-
Lindau
syndrome
(
VHL
)
.
Exceptional
cases
of
hemangioblastoma
arising
outside
the
central
nervous
system
have
been
reported
,
but
little
is
known
about
their
clinicopathologic
and
immunohistochemical
features
.
Twenty
-
two
cases
of
hemangioblastoma
arising
at
peripheral
sites
were
identified
in
consultation
files
.
Clinical
,
morphologic
,
and
immunohistochemical
features
were
evaluated
.
Outcome
data
were
obtained
from
referring
pathologists
.
Twelve
patients
were
female
and
10
male
;
the
median
age
was
58
years
(
range
,
27
to
79
y
)
.
All
the
tumors
were
solitary
(
except
1
)
and
arose
in
spinal
nerve
roots
(
12
)
,
kidney
(
3
)
,
intestine
(
2
)
,
orbit
(
1
)
,
forearm
(
1
)
,
peritoneum
(
1
)
,
periadrenal
soft
tissue
(
1
)
,
and
flank
(
1
)
.
Five
patients
had
VHL
;
another
5
had
lesions
suggestive
of
VHL
.
One
patient
had
tuberous
sclerosis
.
The
median
tumor
size
was
4
cm
(
range
,
1
.
3
to
15
cm
)
.
Most
tumors
were
well
circumscribed
;
6
were
poorly
marginated-
3
eroded
the
adjacent
bone
and
1
extended
into
the
pleura
.
All
tumors
were
composed
of
an
admixed
population
of
plump
spindle
cells
and
microvacuolated
cells
with
palely
eosinophilic
or
clear
cytoplasm
,
which
often
mimicked
lipoblasts
or
renal
cell
carcinoma
.
In
5
cases
the
microvacuolated
cells
were
scant
.
Spindle
cell
nuclei
were
hyperchromatic
or
vesicular
with
inconspicuous
nucleoli
.
Four
tumors
showed
marked
nuclear
pleomorphism
.
Mitotic
activity
was
low
(
range
,
0
to
2
/
10
HPF
)
.
All
tumors
had
a
complex
capillary
network
,
with
admixed
larger
thin
-walled
or
thick
-walled
vessels
in
a
solid
and
often
lobular
growth
pattern
,
similar
to
central
nervous
system
hemangioblastoma
.
In
9
cases
the
larger
vessels
showed
a
branching
hemangiopericytoma-like
pattern
.
No
necrosis
or
lymphovascular
invasion
was
identified
.
Tumor
cells
expressed
inhibin
in
95
%
(
20
/
21
)
,
neuron-
specific
enolase
in
79
%
(
15
/
19
)
,
and
S
100
protein
in
65
%
(
13
/
20
)
;
they
also
expressed
GLUT
1
(
7
/
10
,
mostly
weak
)
,
SMA
(
4
/
5
)
,
epithelial
membrane
antigen
(
2
/
8
,
focal
)
,
PAX
8
(
1
/
10
)
,
and
desmin
(
1
/
4
)
.
Brachyury
was
consistently
negative
(
0
/
19
)
,
as
were
keratin
,
HMB-
45
,
melan-
A
,
and
GFAP
.
CD
31
and
CD
34
highlighted
tumor
vasculature
.
Follow-up
information
was
available
for
17
patients
(
range
,
5
to
117
mo
;
median
36
mo
)
.
Three
patients
had
locally
persistent
disease
after
incomplete
resection
.
True
local
recurrence
or
distant
metastasis
has
not
been
identified
in
any
patient
so
far
.
One
patient
died
of
metastatic
renal
cell
carcinoma
.
Peripheral
hemangioblastoma
is
rare
,
often
associated
with
VHL
syndrome
,
and
may
mimic
some
malignant
tumors
.
The
immunohistochemical
profile
can
aid
diagnosis
.
Unresectable
cases
may
be
locally
aggressive
,
but
complete
excision
appears
to
be
curative
.
Recognition
of
this
tumor
may
identify
patients
in
whom
testing
for
VHL
syndrome
is
warranted
.
Diseases
Validation
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"central nervous system"
symptom
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x-linked adrenoleukodystrophy
zellweger syndrome
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