Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"advanced disease"
symptom
adrenomyeloneuropathy
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
fabry disease
hodgkin lymphoma, classical
primary effusion lymphoma
primary hyperoxaluria type 1
systemic capillary leak syndrome
well-differentiated liposarcoma
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom