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p14(ARF) methylation is a common event in the pathogenesis and progression of myxoid and pleomorphic liposarcoma.
[pleomorphic liposarcoma]
Liposarcoma
represents
the
most
frequent
group
of
soft
tissue
sarcomas
.
The
group
can
be
divided
into
three
different
classes
:
(
1
)
differentiated
/
undifferentiated
(
WDLPS
/
DDLPS
)
,
(
2
)
myxoid
/
round
cell
(
MLPS
/
RCLPS
)
and
(
3
)
pleomorphic
liposarcoma
(
PLS
)
.
It
has
become
apparent
that
p
53
-
p
14
and
Rb-
p
16
pathways
play
important
roles
in
the
pathogenesis
of
various
sarcoma
types
.
Molecular
studies
of
the
genes
involved
in
these
two
pathways
showed
wide
variations
between
the
liposarcoma
subtypes
or
even
within
the
same
subtype
.
We
sought
to
examine
mutational
status
of
p
53
and
methylation
status
of
p
16
(
INK
4
a
)
/
p
14
(
ARF
)
genes
in
primary
and
recurrent
liposarcoma
tumors
.
There
were
twelve
myxoid
(
12
/
18
,
66
.
7
Â
%
)
and
six
pleomorphic
liposarcoma
(
6
/
18
,
33
.
3
Â
%
)
samples
.
Immunohistochemical
analysis
revealed
that
p
53
protein
was
overexpressed
in
3
/
12
MLPS
(
25
Â
%
)
and
6
/
6
PLS
(
100
Â
%
)
.
Mutational
analysis
showed
that
2
/
11
MLPS
(
18
.
2
Â
%
)
and
2
/
6
PLS
(
33
.
3
Â
%
)
contained
mutated
p
53
gene
.
On
the
other
hand
,
3
/
18
samples
(
16
.
7
Â
%
)
had
methylated
p
16
promoter
.
However
,
the
frequencies
of
the
p
14
(
ARF
)
gene
methylation
were
83
.
3
Â
%
(
10
/
12
)
and
50
Â
%
(
3
/
6
)
in
myxoid
and
pleomorphic
group
,
respectively
.
Overall
,
15
out
of
18
(
83
.
3
Â
%
)
samples
had
either
p
53
gene
mutation
or
methylated
p
14
(
ARF
)
promoter
.
The
results
from
the
current
study
suggest
significant
impact
of
the
p
14
(
ARF
)
gene
methylation
on
the
pathogenesis
and
progression
of
myxoid
and
to
a
lesser
extent
pleomorphic
liposarcoma
.
Despite
the
limited
number
of
samples
,
our
study
points
to
necessity
of
further
investigation
of
p
53
-
p
14
and
Rb-
p
16
pathways
in
liposarcoma
.
Diseases
Validation
Diseases presenting
"limited number"
symptom
22q11.2 deletion syndrome
achondroplasia
cholangiocarcinoma
congenital diaphragmatic hernia
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
erythropoietic protoporphyria
liposarcoma
neonatal adrenoleukodystrophy
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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