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Sensitivity of MDM2 amplification and unexpected multiple faint alphoid 12 (alpha 12 satellite sequences) signals in atypical lipomatous tumor.
[dedifferentiated liposarcoma]
This
study
assessed
whether
analysis
of
MDM
2
copy
number
by
fluorescence
in
situ
hybridization
(
FISH
)
would
help
distinguish
lipomas
from
atypical
lipomatous
tumors
,
otherwise
referred
to
as
well-differentiated
liposarcomas
,
using
a
commercially
available
MDM
2
FISH
kit
.
227
lipomatous
and
201
non-lipomatous
tumors
were
analyzed
to
assess
its
sensitivity
and
specificity
.
Of
178
mature
lipomatous
tumors
,
86
were
classified
histologically
as
lipoma
and
92
as
atypical
lipomatous
tumor
.
Two
of
the
lipomas
harboring
MDM
2
amplification
were
reclassified
as
atypical
lipomatous
tumors
.
Overall
,
13
atypical
lipomatous
tumors
did
not
reveal
MDM
2
or
CDK
4
amplification
,
although
this
was
reduced
to
12
following
analysis
of
multiple
slides
.
Three
of
these
cases
revealed
very
occasional
tumor
cells
harboring
high
-level
MDM
2
amplification
,
two
had
a
dedifferentiated
component
,
and
MDM
2
amplification
was
detected
when
one
tumor
recurred
.
The
remaining
six
cases
exhibited
reactive
/
inflammatory
features
and
were
reclassified
as
lipomas
.
The
findings
indicate
that
MDM
2
amplification
is
93
.
5
%
sensitive
for
diagnosing
atypical
lipomatous
tumor
.
A
total
of
2
of
the
20
dedifferentiated
liposarcomas
failed
to
reveal
MDM
2
amplification
.
All
atypical
lipomatous
tumors
measured
>
10
cm
,
two
dedifferentiated
liposarcoma
presented
de
novo
at
<
10
cm
,
and
~
50
%
of
lipomas
measured
>
10
cm
.
Spindle
cell
lipomas
,
lipoblastomas
,
hibernomas
and
pleomorphic
liposarcomas
did
not
reveal
MDM
2
amplification
.
Of
201
non-lipomatous
tumors
,
eight
revealed
MDM
2
amplification
or
multiple
faint
alphoid
12
signals
and
were
reclassified
as
dedifferentiated
liposarcoma
.
Multiple
faint
alphoid
12
signals
were
observed
in
nine
tumors
from
seven
patients
,
an
observation
not
previously
reported
on
paraffin
sections
:
these
included
four
atypical
lipomatous
tumors
,
and
three
dedifferentiated
liposarcomas
,
one
previously
diagnosed
as
a
myxofibrosarcoma
,
all
of
which
also
revealed
amplification
of
CDK
4
,
although
two
lacked
MDM
2
amplification
.
MDM
2
FISH
test
is
a
useful
adjunct
to
histology
for
distinguishing
lipoma
from
atypical
lipomatous
tumor
.
The
limitations
of
molecular
genetic
tests
must
be
known
before
introducing
them
into
a
clinical
service
.
Diseases
Validation
Diseases presenting
"multiple slides"
symptom
dedifferentiated liposarcoma
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