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Epithelial-specific loss of PTEN results in colorectal juvenile polyp formation and invasive cancer.
[cowden syndrome]
Cowden
syndrome
(
CS
)
is
a
rare
autosomal
dominant
cancer
-prone
disorder
caused
by
germ-line
mutation
of
the
phosphatase
and
tensin
homolog
mutated
on
chromosome
10
(
PTEN
)
tumor
-suppressor
gene
.
Affected
patients
commonly
develop
juvenile
polyps
,
and
show
an
elevated
risk
of
developing
colorectal
cancers
.
The
etiology
of
these
peculiar
polyps
remains
unclear
,
although
previous
work
has
suggested
somatic
PTEN
alterations
in
the
stroma
of
juvenile
polyps
.
After
a
long
latency
period
,
we
find
epithelial-
specific
PTEN
deletion
to
cause
formation
of
juvenile
polyps
in
the
colorectum
without
stromal
PTEN
loss
.
More
important
,
we
find
that
these
lesions
closely
recapitulate
all
of
the
characteristic
histopathological
features
of
juvenile
polyps
seen
in
patients
with
CS
,
including
stromal
alterations
and
dysplastic
transformation
to
colorectal
carcinoma
.
The
stromal
alterations
we
identify
after
epithelial-
specific
PTEN
loss
suggest
that
PTEN
may
be
involved
in
altered
epithelial-mesenchymal
cross
talk
,
which
,
in
turn
,
predisposes
to
colorectal
neoplasia
and
polyposis
.
Our
transgenic
model
is
the
first
to
recapitulate
colorectal
juvenile
polyposis
in
patients
with
CS
.
We
conclude
that
stromal
PTEN
loss
is
not
a
prerequisite
for
the
formation
of
juvenile
polyps
,
and
that
colorectal
juvenile
polyps
in
CS
are
bona
fide
neoplastic
precursor
lesions
.
Diseases
Validation
Diseases presenting
"and show an elevated risk of developing colorectal cancers"
symptom
cowden syndrome
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