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Colonic manifestations of PTEN hamartoma tumor syndrome: case series and systematic review.
[cowden syndrome]
To
investigate
our
clinical
experience
with
the
colonic
manifestations
of
phosphatase
and
tensin
homolog
on
chromosome
ten
(
PTEN
)
hamartoma
tumor
syndrome
(
PHTS
)
and
to
perform
a
systematic
literature
review
regarding
the
same
.
This
study
was
approved
by
the
appropriate
institutional
review
board
prior
to
initiation
.
A
clinical
genetics
database
was
searched
for
patients
with
PHTS
or
a
component
syndrome
that
received
gastrointestinal
endoscopy
or
pathology
interpretation
at
our
center
.
These
patient
's
records
were
retrospectively
reviewed
for
clinical
characteristics
(
including
family
history
and
genetic
testing
)
,
endoscopy
results
and
pathology
findings
.
We
also
performed
a
systematic
review
of
the
literature
for
case
series
of
PHTS
or
component
syndromes
that
reported
gastrointestinal
manifestations
and
investigations
published
after
consensus
diagnostic
criteria
were
established
in
1996
.
These
results
were
compiled
and
reported
.
Eight
patients
from
our
institution
met
initial
inclusion
criteria
.
Of
these
,
5
patients
underwent
4
.
2
colonoscopies
at
mean
age
45
.
8
±
10
.
8
years
.
All
were
found
to
have
colon
polyps
during
their
clinical
course
and
polyp
histology
included
adenoma
,
hyperplastic
,
ganglioneuroma
and
juvenile
.
No
malignant
lesions
were
identified
.
Two
had
multiple
histologic
types
.
One
patient
underwent
colectomy
due
to
innumerable
polyps
and
concern
for
future
malignant
potential
.
Systematic
literature
review
of
PHTS
patients
undergoing
endoscopy
revealed
107
patients
receiving
colonoscopy
at
mean
age
37
.
4
years
.
Colon
polyps
were
noted
in
92
.
5
%
and
multiple
colon
polyp
histologies
were
reported
in
53
.
6
%
.
Common
polyp
histologies
included
hyperplastic
(
43
.
6
%
)
,
adenoma
(
40
.
4
%
)
,
hamartoma
(
38
.
3
%
)
,
ganglioneuroma
(
33
%
)
and
inflammatory
(
24
.
5
%
)
polyps
.
Twelve
(
11
.
2
%
)
patients
had
colorectal
cancer
at
mean
age
46
.
7
years
(
range
35
-
62
)
.
Clinical
outcomes
secondary
to
colon
polyposis
and
malignancy
were
not
commonly
reported
.
PHTS
has
a
high
prevalence
of
colon
polyposis
with
multiple
histologic
types
.
It
should
be
considered
a
mixed
polyposis
syndrome
.
Systematic
review
found
an
increased
prevalence
of
colorectal
cancer
and
we
recommend
initiating
colonoscopy
for
colorectal
cancer
surveillance
at
age
35
years
.
Diseases
Validation
Diseases presenting
"investigations published after consensus diagnostic criteria were established in 1996"
symptom
cowden syndrome
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