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Retroperitoneal undifferentiated pleomorphic sarcoma having microsatellite instability associated with Muir-Torre syndrome: case report and review of literature.
[dedifferentiated liposarcoma]
Muir-
Torre
syndrome
represents
a
rare
autosomal
dominant
familial
cancer
predisposition
disorder
defined
by
the
occurrence
of
cutaneous
sebaceous
tumors
and
an
internal
malignancy
,
most
commonly
gastrointestinal
carcinoma
.
Most
examples
of
hereditary
non-polyposis
cancer
syndrome
(
Lynch
syndrome
)
,
including
the
Muir-
Torre
syndrome
,
are
associated
with
microsatellite
instability
(
MSI
)
and
germline
mutations
in
mismatch
repair
genes-most
commonly
MLH
1
or
MSH
2
.
We
present
a
58
-
year
-old
man
with
Muir-
Torre
syndrome
and
a
large
retroperitoneal
mass
(
14
.
3
cm
in
greatest
dimension
)
encompassing
the
left
adrenal
gland
.
Sections
showed
a
cellular
malignant
tumor
composed
of
spindle
cells
with
a
high
mitotic
index
and
lacking
morphologic
evidence
of
adipocytic
differentiation
.
It
was
weakly
reactive
for
smooth
muscle
actin
(
SMA
)
and
negative
for
desmin
,
CD
117
,
CD
31
,
CD
34
,
S
100
protein
and
pan-cytokeratin
.
Further
immunohistochemical
analysis
revealed
intact
expression
of
MLH
1
but
loss
of
MSH
2
in
tumor
nuclei
.
Compared
to
non-neoplastic
tissue
,
the
tumor
showed
MSI
in
five
of
seven
dinucleotide
markers
.
Fluorescence
in
situ
hybridization
(
FISH
)
failed
to
reveal
12
q
15
amplification
,
effectively
excluding
dedifferentiated
liposarcoma
as
a
diagnostic
consideration
.
This
is
a
rare
case
of
a
patient
with
Muir-
Torre
syndrome
who
developed
a
related
high
-grade
undifferentiated
pleomorphic
sarcoma
as
the
associated
internal
malignancy
.
Diseases
Validation
Diseases presenting
"associated internal malignancy"
symptom
dedifferentiated liposarcoma
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