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Retroperitoneal dedifferentiated liposarcoma lacking MDM2 amplification in a patient with a germ line CHEK2 mutation.
[dedifferentiated liposarcoma]
Germ
line
mutations
in
genes
that
encode
proteins
involved
in
the
DNA
damage
response
predispose
patients
to
a
variety
of
tumors
.
Checkpoint
kinase
2
,
encoded
by
the
CHEK
2
gene
,
is
important
in
transducing
the
DNA
damage
response
.
Germ
line
CHEK
2
mutations
are
seen
in
a
subset
of
patients
with
a
familial
breast
cancer
and
sarcoma
phenotype
.
We
report
a
case
of
retroperitoneal
dedifferentiated
liposarcoma
in
a
61
-
year
-old
female
with
germ
line
CHEK
2
mutation
.
MDM
2
gene
amplification
normally
present
and
used
to
aid
in
the
diagnosis
of
retroperitoneal
dedifferentiated
liposarcoma
was
absent
in
this
case
.
Lack
of
MDM
2
overexpression
has
similarly
been
reported
in
liposarcomas
arising
in
patients
with
germ
line
TP
53
mutations
.
We
propose
this
case
may
highlight
a
nonamplified
MDM
2
phenotype
in
well-
and
dedifferentiated
liposarcomas
arising
in
patients
with
germ
line
mutations
of
genes
involved
in
p
53
-
associated
DNA
damage
response
pathways
.
Diseases
Validation
Diseases presenting
"liposarcoma"
symptom
dedifferentiated liposarcoma
erdheim-chester disease
focal myositis
gm1 gangliosidosis
liposarcoma
pleomorphic liposarcoma
well-differentiated liposarcoma
This symptom has already been validated