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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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated