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Impact of molecular analysis on the final sarcoma diagnosis: a study on 763 cases collected during a European epidemiological study.
[well-differentiated liposarcoma]
Sarcomas
are
rare
,
heterogenous
,
and
often
difficult
to
classify
.
A
large
proportion
of
sarcomas
are
associated
with
specific
molecular
genetic
lesions
such
as
translocations
,
mutations
,
and
amplifications
,
which
are
helpful
in
the
diagnosis
of
individual
cases
.
However
,
the
exact
impact
of
molecular
genetics
on
the
final
diagnosis
of
sarcomas
is
unknown
.
In
this
study
,
all
soft
tissue
and
visceral
sarcomas
arising
in
patients
living
in
3
European
regions
in
2
countries
(
representing
13
million
inhabitants
)
were
collected
and
reviewed
during
2
consecutive
years
.
A
molecular
analysis
was
performed
for
all
suspicions
of
sarcomas
with
specific
genetic
lesions
[
mutations
of
KIT
/
PDGFRA
in
gastrointestinal
stromal
tumors
(
GISTs
)
,
reciprocal
translocation
,
or
amplification
of
MDM
2
in
atypical
lipomatous
tumors
,
well-differentiated
liposarcoma
-
dedifferentiated
liposarcoma
(
ALT
/
WDLPS-DDLPS
)
]
.
To
evaluate
the
impact
of
molecular
tests
,
a
premolecular
analysis
diagnosis
was
proposed
with
3
categories
of
certainty
:
certain
,
probable
,
or
possible
.
A
molecular
analysis
was
performed
in
763
/
1484
tumors
corresponding
to
295
cases
in
which
GIST
was
suspected
,
248
sarcomas
with
a
suspicion
of
translocation
,
and
220
cases
in
which
ALT
/
WDLPS-DDLPS
was
suspected
.
Molecular
analysis
was
found
to
be
useful
(
confirms
a
probable
diagnosis
)
in
11
(
4
%
)
GISTs
,
62
(
26
%
)
suspicions
of
translocation
,
and
66
(
31
%
)
suspicions
of
ALT
/
WDLPS-DDLPS
;
and
necessary
(
allows
a
possible
diagnosis
)
in
2
(
<
1
%
)
GISTs
,
31
(
12
%
)
suspicions
of
translocation
,
and
19
(
9
%
)
suspicions
of
ALT
/
WDLPS-DDLPS
.
This
study
performed
in
an
epidemiological
setting
demonstrates
the
significant
impact
of
molecular
analysis
on
the
final
sarcoma
diagnosis
and
favors
such
an
analysis
on
any
tumor
with
a
suspicion
of
a
specific
genomic
abnormality
and
for
which
the
diagnosis
is
uncertain
.
Diseases
Validation
Diseases presenting
"sarcoma"
symptom
alpha-thalassemia
carcinoma of the gallbladder
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
erdheim-chester disease
esophageal adenocarcinoma
focal myositis
hodgkin lymphoma, classical
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
pleomorphic liposarcoma
primary effusion lymphoma
severe combined immunodeficiency
waldenström macroglobulinemia
well-differentiated liposarcoma
This symptom has already been validated
