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The MDM2 SNP309 G allele is not preferentially amplified in bone and soft tissue tumors.
[well-differentiated liposarcoma]
The
transcriptional
enhancer
region
in
intron
1
of
the
proto-oncogene
MDM
2
contains
a
polymorphic
site
(
SNP
309
)
that
may
harbor
a
G
or
a
T
nucleotide
.
Previous
studies
have
shown
that
the
G
allele
confers
a
higher
affinity
for
the
Sp
1
transcription
factor
,
resulting
in
an
increased
transcriptional
activity
of
MDM
2
.
A
constitutional
G
allele
has
also
been
associated
with
earlier
onset
of
various
cancer
types
,
and
studies
of
sarcomas
have
shown
an
enrichment
of
the
G
allele
in
tumors
with
MDM
2
amplification
,
notably
atypical
lipomatous
tumor
(
also
known
as
well-differentiated
liposarcoma
)
.
In
the
present
study
,
we
analyzed
the
SNP
309
genotype
in
blood
samples
and
tumor
tissue
from
57
patients
with
bone
or
soft
tissue
tumors
showing
amplification
of
MDM
2
.
We
did
not
observe
any
constitutional
enrichment
of
the
G
allele
.
More
importantly
,
there
was
no
preferential
amplification
of
the
G
allele
in
tumor
tissue
from
TG
heterozygotes
.
The
expression
levels
of
MDM
2
messenger
RNA
were
not
higher
in
tumors
with
amplification
of
the
G
allele
than
in
tumors
with
amplification
of
the
T
allele
.
Thus
,
we
could
not
find
any
evidence
for
a
selective
advantage
of
the
SNP
309
G
allele
in
bone
and
soft
tissue
tumors
with
MDM
2
amplification
.
Diseases
Validation
Diseases presenting
"lipomatous tumor"
symptom
dedifferentiated liposarcoma
liposarcoma
pleomorphic liposarcoma
well-differentiated liposarcoma
This symptom has already been validated