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Should patients with Cowden syndrome undergo prophylactic thyroidectomy?
[cowden syndrome]
Cowden
syndrome
(
CS
)
is
dominantly
inherited
and
predisposes
patients
to
tumors
in
multiple
organs
.
We
characterized
CS
-associated
malignant
and
benign
thyroid
disease
.
Of
data
from
3
,
477
prospectively
recruited
CS
patients
with
known
genetic
analysis
,
we
analyzed
225
PTEN
mutation
+
patients
whose
treatment
occurred
at
our
center
(
n
=
25
)
or
other
hospitals
nationwide
(
n
=
200
)
.
A
total
of
32
of
225
PTEN
mutation
+
patients
(
14
%
)
had
thyroid
cancer
:
52
%
papillary
,
28
%
follicular-variant
papillary
,
14
%
follicular
,
and
6
%
anaplastic
.
Median
age
at
diagnosis
was
35
years
compared
with
49
years
for
Surveillance
Epidemiology
and
End
Results
population
data
.
Initial
thyroid
ultrasonography
in
16
of
25
patients
revealed
thyroiditis
/
goiters
in
all
>
13
years
age
,
leading
to
FNA
in
7
(
64
%
)
,
thyroidectomy
in
3
(
27
%
)
,
and
new
cancer
diagnosis
in
2
(
18
%
)
.
Three
with
severe
autism
required
intraoperative
sedation
for
ultrasonography
.
A
total
of
9
of
25
patients
were
monitored
after
multiple
partial
thyroidectomies
for
goiters
by
age
42
(
n
=
5
)
,
thyroiditis
,
or
cancer
detected
by
age
36
(
n
=
3
)
.
PTEN
mutation
+
patients
with
CS
have
an
enormous
prevalence
of
thyroid
disease
.
Earlier
screening
may
be
advisable
because
thyroiditis
and
nodules
are
seen
by
the
time
patients
reach
adolescence
,
and
cancer
diagnosis
occurs
on
average
14
years
earlier
than
expected
.
Furthermore
,
the
risks
observed
may
justify
prophylactic
total
thyroidectomy
in
select
,
if
not
all
,
patients
,
particularly
those
with
developmental
disorders
.
Diseases
Validation
Diseases presenting
"benign thyroid disease"
symptom
cowden syndrome
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