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A newly characterized human well-differentiated liposarcoma cell line contains amplifications of the 12q12-21 and 10p11-14 regions.
[well-differentiated liposarcoma]
While
surgery
is
the
usual
treatment
for
localized
well-differentiated
and
dedifferentiated
liposarcomas
(
WDLPS
/
DDLPS
)
,
the
therapeutic
options
for
patients
with
advanced
disease
are
limited
.
The
classical
antimitotic
treatments
are
most
often
inefficient
.
The
establishment
of
genetically
characterized
cell
lines
is
therefore
crucial
for
providing
in
vitro
models
for
novel
targeted
therapies
.
We
have
used
spectral
karyotyping
,
fluorescence
in
situ
hybridization
with
whole
chromosome
painting
and
locus-
specific
probes
,
and
array-comparative
genomic
hybridization
to
identify
the
chromosomal
and
molecular
alterations
of
a
novel
cell
line
established
from
a
recurring
sclerosing
WDLPS
.
The
karyotype
was
hypertriploid
and
showed
multiple
structural
anomalies
.
All
cells
retained
the
presence
of
a
giant
marker
chromosome
that
had
been
previously
identified
in
the
primary
cell
cultures
.
This
giant
chromosome
contained
high
-level
amplification
of
chromosomal
regions
12
q
13
-
21
and
lacked
the
alpha-satellite
centromeric
sequences
associated
with
WDLPS
/
DDLPS
.
The
12
q
amplicon
was
large
,
containing
370
amplified
genes
.
The
DNA
copy
number
ranged
from
3
to
57
.
The
highest
levels
of
amplification
were
observed
at
12
q
14
.
3
for
GNS
,
WIF
1
,
and
HMGA
2
.
We
analyzed
the
mRNA
expression
status
by
real-time
reverse
transcription
polymerase
chain
reaction
for
six
genes
from
this
amplicon
:
MDM
2
,
HMGA
2
,
CDK
4
,
TSPAN
31
,
WIF
1
,
and
YEATS
4
.
mRNA
overexpression
was
correlated
with
genomic
amplification
.
A
second
amplicon
originating
from
10
p
11
-
14
was
also
present
in
the
giant
marker
chromosome
.
The
10
p
amplicon
contained
62
genes
,
including
oncogenes
such
as
MLLT
10
,
previously
described
in
chimeric
fusion
with
MLL
in
leukemias
,
NEBL
,
and
BMI
1
.
Diseases
Validation
Diseases presenting
"giant chromosome"
symptom
well-differentiated liposarcoma
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