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Are peripheral purely undifferentiated pleomorphic sarcomas with MDM2 amplification dedifferentiated liposarcomas?
[dedifferentiated liposarcoma]
Dedifferentiated
liposarcoma
(
DDLPS
)
has
been
defined
as
a
tumor
composed
of
well-differentiated
liposarcoma
associated
with
a
nonlipogenic
undifferentiated
sarcoma
and
is
genetically
characterized
by
a
12
q
13
-
15
amplicon
with
MDM
2
amplification
.
Some
peripheral
(
extremities
,
trunk
wall
,
head
/
neck
)
undifferentiated
pleomorphic
sarcomas
(
UPS
)
without
areas
of
well-differentiated
liposarcoma
present
an
MDM
2
amplification
.
We
addressed
whether
they
are
true
DDLPS
or
not
.
We
compared
the
clinical
data
,
histologic
data
,
MDM
2
status
(
immunohistochemistry
[
IHC
]
,
fluorescence
in
situ
hybridization
[
FISH
]
)
,
genomic
profile
(
array
comparative
genomic
hybridization
)
,
and
follow-up
of
19
patients
with
peripheral
UPS
with
MDM
2
amplification
and
62
with
peripheral
conventional
DDLPS
retrieved
from
the
French
sarcoma
network
(
RRePS
)
and
the
Conticabase
(
Connective
Tissue
Cancer
Network
database
)
.
For
a
control
cohort
,
we
described
153
patients
from
the
Conticabase
,
with
peripheral
UPS
without
expression
of
MDM
2
by
IHC
.
By
IHC
,
tumor
cells
were
positive
for
MDM
2
in
59
conventional
DDLPS
and
in
all
UPS
with
MDM
2
amplification
.
FISH
analysis
and
/
or
quantitative
polymerase
chain
reaction
showed
amplification
of
MDM
2
in
54
conventional
DDLPS
and
in
all
UPS
with
MDM
2
amplification
.
The
2
-
year
overall
survival
rates
of
UPS
with
MDM
2
amplification
,
conventional
DDLPS
,
and
UPS
without
expression
of
MDM
2
were
93
.
3
%
,
90
.
7
%
,
and
73
.
9
%
,
respectively
.
Such
similarities
in
the
clinical
characteristics
,
morphology
,
genomic
profile
,
and
follow-up
of
peripheral
UPS
with
MDM
2
amplification
and
peripheral
conventional
DDLPS
strongly
suggest
that
peripheral
UPS
with
MDM
2
amplification
are
in
fact
DDLPS
.
Faced
with
histologic
diagnosis
of
UPS
,
a
systematic
IHC
evaluation
of
MDM
2
allows
a
selection
of
cases
for
FISH
analysis
permitting
the
diagnosis
of
DDLPS
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
