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PAX8 expression in sporadic hemangioblastoma of the kidney supports a primary renal cell lineage: implications for differential diagnosis.
[von hippel-lindau disease]
Hemangioblastoma
is
a
benign
,
morphologically
distinctive
neoplasm
of
disputed
histogenesis
that
typically
occurs
in
the
central
nervous
system
either
in
the
setting
of
von
Hippel-
Lindau
disease
or
more
often
sporadically
.
Extraneural
hemangioblastoma
is
exceptional
and
raises
a
challenging
differential
diagnosis
.
Herein
,
we
report
a
primary
renal
hemangioblastoma
occurring
in
51
-
year
-old
woman
without
stigmata
of
von
Hippel-
Lindau
disease
.
Histologically
,
the
tumor
was
composed
of
sheets
of
polygonal
epithelioid
stromal
cells
with
ample
pale
or
eosinophilic
,
vacuolated
cytoplasm
in
an
arborizing
capillary
network
.
Tumor
cells
showed
variable
nuclear
pleomorphism
,
intranuclear
cytoplasmic
invaginations
,
scattered
hyaline
globules
,
and
psammoma-like
calcifications
.
Some
areas
showed
branching
hemangiopericytoma-like
vessels
with
tumor
cells
radiating
from
the
wall
,
while
other
areas
were
edematous
and
hyalinized
with
sparse
stromal
cells
and
abundant
reticular
vessels
.
Immunohistochemically
,
the
tumor
cells
reacted
strongly
and
diffusely
with
antibodies
to
PAX
8
,
CD
10
,
α-inhibin
,
S
100
protein
,
neuron-
specific
enolase
,
and
vimentin
,
and
they
showed
focal
positivity
with
antibodies
to
epithelial
membrane
antigen
and
AE
1
/
AE
3
.
Tumor
cells
were
negative
for
CK
7
,
CK
8
/
18
,
RCC
antigen
,
synaptophysin
,
chromogranin
,
c-kit
,
D
2
-
40
,
HMB
45
,
melan-
A
,
cathepsin
K
,
SMA
,
desmin
,
CD
31
,
CD
34
,
and
estrogen
and
progesterone
receptors
.
Positive
immunoreactivity
for
PAX
8
is
unexpected
and
contrasts
to
central
nervous
system
(
CNS
)
hemangioblastomas
,
which
are
essentially
always
negative
for
PAX
8
.
This
novel
finding
adds
support
to
the
hypothesis
that
the
immunoprofile
of
extraneural
hemangioblastoma
varies
with
site
of
origin
,
perhaps
as
a
result
of
tumor
cell
lineage
and
retention
of
organ-
specific
markers
or
acquisition
of
site-
specific
antigens
due
to
local
factors
.
Diseases
Validation
Diseases presenting
"neoplasm"
symptom
adrenal incidentaloma
alexander disease
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial hypocalciuric hypercalcemia
focal myositis
hodgkin lymphoma, classical
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated