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A random Abstract
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Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field.
[pleomorphic liposarcoma]
Muir-
Torre
syndrome
is
a
variant
of
Lynch
syndrome
,
characterised
by
sebaceous
neoplasia
and
/
or
keratoacanthomas
associated
with
visceral
malignancies
.
Muir-
Torre
syndrome
is
caused
by
germline
mutations
of
one
of
the
mismatch
repair
genes
,
frequently
MSH
2
and
less
frequently
MLH
1
and
MSH
6
.
Visceral
malignancies
associated
with
Muir-
Torre
syndrome
and
Lynch
syndrome
include
colorectal
,
endometrial
and
other
gastrointestinal
,
urological
and
gynaecological
malignancies
.
Small
numbers
of
Lynch
syndrome
-associated
soft
tissue
sarcomas
have
been
reported
,
but
there
are
no
reported
cases
of
soft
tissue
sarcomas
in
Muir-
Torre
syndrome
.
In
this
study
,
we
report
a
74
-
year
-old
man
with
known
Muir-
Torre
syndrome
with
confirmed
MSH
2
germline
mutation
,
diagnosed
with
pleomorphic
liposarcoma
of
the
right
buttock
in
a
previous
radiation
field
.
The
tumour
showed
loss
of
expression
of
MSH
2
and
MSH
6
on
immunohistochemistry
.
Immunohistochemistry
on
another
pleomorphic
liposarcoma
in
a
different
patient
with
no
previous
history
of
Muir-
Torre
syndrome
or
Lynch
syndrome
showed
no
loss
of
expression
of
mismatch
repair
proteins
.
This
is
the
first
report
of
Muir-
Torre
syndrome
-associated
sarcoma
and
the
first
case
of
post-radiation
sarcoma
in
Lynch
syndrome
.
Diseases
Validation
Diseases presenting
"neoplasia"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
hodgkin lymphoma, classical
liposarcoma
lymphangioleiomyomatosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
pleomorphic liposarcoma
primary effusion lymphoma
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated