Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
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
"neoplasia"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
hodgkin lymphoma, classical
liposarcoma
lymphangioleiomyomatosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
pleomorphic liposarcoma
primary effusion lymphoma
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated