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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
"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