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PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?
[cowden syndrome]
PTEN
Hamartoma
Tumor
syndrome
(
PHTS
)
includes
patients
with
Cowden
syndrome
or
other
syndromes
with
germline
mutation
of
the
PTEN
tumor
suppressor
gene
.
The
risk
for
breast
,
colorectal
,
and
endometrial
cancer
and
polyposis
is
increased
,
creating
clinical
overlap
with
hereditary
breast
and
ovarian
cancer
(
HBOC
)
,
Lynch
syndrome
(
LS
)
,
and
adenomatous
polyposis
syndromes
(
APS
)
.
We
reviewed
our
series
of
patients
with
PHTS
to
determine
how
often
testing
criteria
for
these
syndromes
were
met
and
how
often
other-
gene
testing
was
ordered
before
testing
PTEN
.
Patients
were
prospectively
recruited
by
relaxed
International
Cowden
Consortium
criteria
or
presence
of
known
germline
PTEN
mutation
.
Mutations
were
identified
by
mutation
scanning
/
multiplex
ligation-dependent
probe
amplification
analysis
and
confirmed
by
sequencing
/
quantitative
polymerase
chain
reaction
.
Patients
were
excluded
if
they
were
adopted
,
were
<
18
years
of
age
,
or
if
they
were
diagnosed
with
Cowden
syndrome
before
1998
.
Standard
risk-assessment
models
were
applied
to
determine
whether
patients
met
HBOC
testing
criteria
,
LS-relevant
Amsterdam
II
/
Bethesda
2004
criteria
,
or
had
adenomatous
polyps
.
Prior
probability
of
PTEN
mutation
was
estimated
with
the
Cleveland
Clinic
PTEN
risk
calculator
.
Of
137
PTEN
mutation
-
positive
adult
probands
,
59
(
43
.
1
%
)
met
testing
criteria
for
HBOC
or
LS
.
Of
these
,
45
(
32
.
8
%
)
were
first
offered
HBOC
,
LS
,
or
APS
testing
.
Of
those
who
underwent
APS
testing
,
none
of
the
six
patients
met
criteria
.
Initial
risk
assessment
by
a
genetics
specialist
was
significantly
associated
with
immediate
PTEN
testing
in
patients
also
meeting
HBOC
testing
criteria
.
Using
this
PTEN
risk
assessment
tool
could
have
spared
gene
testing
for
22
unlikely
syndromes
,
at
a
total
cost
of
$
66
,
080
.
PHTS
is
an
important
differential
diagnosis
for
patients
referred
for
HBOC
,
LS
,
or
APS
.
Risk
assessment
tools
may
help
focus
genetic
analysis
and
aid
in
the
interpretation
of
multiplex
testing
.
Diseases
Validation
Diseases presenting
"ovarian cancer"
symptom
cowden syndrome
esophageal adenocarcinoma
esophageal squamous cell carcinoma
hereditary cerebral hemorrhage with amyloidosis
liposarcoma
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