Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Normal and Functional TP53 in Genetically Stable Myxoid/Round Cell Liposarcoma.
[liposarcoma]
Myxoid
/
round
-cell
liposarcoma
(
MLS
/
RCLS
)
is
characterized
by
either
the
fusion
gene
FUS
-
DDIT
3
or
the
less
commonly
occurring
EWSR
1
-
DDIT
3
and
most
cases
carry
few
or
no
additional
cytogenetic
changes
.
There
are
conflicting
reports
concerning
the
status
and
role
of
TP
53
in
MLS
/
RCLS
.
Here
we
analysed
four
MLS
/
RCLS
derived
cell
lines
for
TP
53
mutations
,
expression
and
function
.
Three
SV
40
transformed
cell
lines
expressed
normal
TP
53
proteins
.
Irradiation
caused
normal
posttranslational
modifications
of
TP
53
and
induced
P
21
expression
in
two
of
these
cell
lines
.
Transfection
experiments
showed
that
the
FUS
-
DDIT
3
fusion
protein
had
no
effects
on
irradiation
induced
TP
53
responses
.
Ion
Torrent
AmpliSeq
screening
,
using
the
Cancer
Hotspot
panel
,
showed
no
dysfunctional
or
disease
associated
alleles
/
mutations
.
In
conclusion
,
our
results
suggest
that
most
MLS
/
RCLS
cases
carry
functional
TP
53
genes
and
this
is
consistent
with
the
low
numbers
of
secondary
mutations
observed
in
this
tumor
entity
.
Diseases
Validation
Diseases presenting
"additional cytogenetic changes"
symptom
liposarcoma
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom