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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
.
