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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
"tumor cells"
symptom
alpha-thalassemia
carcinoma of the gallbladder
cholangiocarcinoma
cushing syndrome
dedifferentiated liposarcoma
dentin dysplasia
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
junctional epidermolysis bullosa
kindler syndrome
liposarcoma
lymphangioleiomyomatosis
pleomorphic liposarcoma
primary effusion lymphoma
severe combined immunodeficiency
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
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