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Utility of PTEN protein dosage in predicting for underlying germline PTEN mutations among patients presenting with thyroid cancer and Cowden-like phenotypes.
[cowden syndrome]
Thyroid
cancer
is
a
major
component
of
Cowden
syndrome
(
CS
)
.
CS
patients
with
an
underlying
PTEN
mutation
(
PTEN
(
mut
+
)
)
have
a
70
-
fold
increased
risk
of
developing
epithelial
thyroid
cancer
.
In
contrast
,
less
than
1
%
of
sporadic
epithelial
thyroid
cancer
patients
carry
a
germline
PTEN
mutation
.
Cost-efficient
markers
capable
of
shortlisting
thyroid
cancers
for
CS
genetic
testing
would
be
clinically
useful
.
Our
objective
was
to
analyze
the
utility
of
patient
blood
phosphate
and
tensin
homolog
deleted
on
chromosome
10
(
PTEN
)
protein
levels
in
predicting
germline
PTEN
mutations
.
We
conducted
a
5
-
yr
,
multicenter
prospective
study
of
2792
CS
and
CS
-like
patients
,
all
of
whom
had
comprehensive
PTEN
analysis
.
Analysis
of
PTEN
and
downstream
proteins
by
immunoblotting
was
performed
on
total
protein
lysates
from
patient-derived
lymphoblast
lines
.
We
compared
blood
PTEN
protein
levels
between
PTEN
(
mut
+
)
patients
and
those
with
variants
of
unknown
significance
or
wild-
type
PTEN
(
PTEN
(
wt
/
vus
)
)
.
We
assessed
the
utility
of
PTEN
protein
levels
in
predicting
germline
PTEN
mutations
.
Of
2792
CS
/
CS
-like
patients
,
721
patients
had
thyroid
cancer
;
582
of
them
(
81
%
)
had
blood
PTEN
protein
analyzed
.
PTEN
germline
pathogenic
mutations
were
present
in
27
of
582
patients
(
4
.
6
%
)
.
Ninety
-
six
percent
(
26
of
27
)
of
PTEN
(
mut
+
)
patients
had
blood
PTEN
protein
levels
in
the
lowest
quartile
as
compared
with
25
%
(
139
of
555
)
of
PTEN
(
wt
/
vus
)
patients
(
P
<
0
.
001
)
.
Low
blood
PTEN
levels
predicted
for
PTEN
(
mut
+
)
cases
with
a
99
.
76
%
negative
predictive
value
(
95
%
confidence
interval
=
98
.
67
-
99
.
96
)
and
a
positive
test
likelihood
ratio
of
3
.
84
(
95
%
confidence
interval
=
3
.
27
-
4
.
52
)
.
Our
study
shows
that
low
blood
PTEN
protein
expression
could
serve
as
a
screening
molecular
correlate
to
predict
for
germline
PTEN
mutation
in
CS
and
CS
-like
presentations
of
thyroid
cancer
.
Diseases
Validation
Diseases presenting
"low blood"
symptom
cowden syndrome
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