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Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
[cowden syndrome]
Patients
with
Cowden
syndrome
(
CS
)
with
underlying
germline
PTEN
mutations
are
at
increased
risk
of
breast
,
thyroid
,
endometrial
,
and
renal
cancers
.
To
our
knowledge
,
risk
of
subsequent
cancers
in
these
patients
has
not
been
previously
explored
or
quantified
.
We
conducted
a
7
-
year
multicenter
prospective
study
(
2005
to
2012
)
of
patients
with
CS
or
CS
-like
disease
,
all
of
whom
underwent
comprehensive
PTEN
mutational
analysis
.
Second
malignant
neoplasms
(
SMNs
)
were
ascertained
by
medical
records
and
confirmed
by
pathology
reports
.
Standardized
incidence
ratios
(
SIRs
)
for
all
SMNs
combined
and
for
breast
,
thyroid
,
endometrial
,
and
renal
cancers
were
calculated
.
Of
the
2
,
912
adult
patients
included
in
our
analysis
,
2
,
024
had
an
invasive
cancer
history
.
Germline
pathogenic
PTEN
mutations
(
PTEN
mutation
positive
)
were
identified
in
114
patients
(
5
.
6
%
)
.
Of
these
114
patients
,
46
(
40
%
)
had
an
SMN
.
Median
age
of
SMN
diagnosis
was
50
years
(
range
,
21
to
71
years
)
.
Median
interval
between
primary
cancer
and
SMN
was
5
years
(
range
,
<
1
to
35
years
)
.
Of
the
51
PTEN
mutation
-
positive
patients
who
presented
with
primary
breast
cancer
,
11
(
22
%
)
had
a
subsequent
new
primary
breast
cancer
and
10
-
year
second
breast
cancer
cumulative
risk
of
29
%
(
95
%
CI
,
15
.
3
to
43
.
7
)
.
Risk
of
SMNs
compared
with
that
of
the
general
population
was
significantly
elevated
for
all
cancers
(
SIR
,
7
.
74
;
95
%
CI
,
5
.
84
to
10
.
07
)
,
specifically
for
breast
(
SIR
,
8
.
92
;
95
%
CI
,
5
.
85
to
13
.
07
)
,
thyroid
(
SIR
,
5
.
83
;
95
%
CI
,
3
.
01
to
10
.
18
)
,
and
endometrial
SMNs
(
SIR
,
14
.
08
.
07
;
95
%
CI
,
7
.
10
to
27
.
21
)
.
Patients
with
CS
with
germline
PTEN
mutations
are
at
higher
risk
for
SMNs
compared
with
the
general
population
.
Prophylactic
mastectomy
should
be
considered
on
an
individual
basis
given
the
significant
risk
of
subsequent
breast
cancer
.
Diseases
Validation
Diseases presenting
"positive patients"
symptom
allergic bronchopulmonary aspergillosis
cadasil
cholangiocarcinoma
cowden syndrome
esophageal squamous cell carcinoma
heparin-induced thrombocytopenia
hodgkin lymphoma, classical
kabuki syndrome
kallmann syndrome
primary effusion lymphoma
sneddon syndrome
typhoid
waldenström macroglobulinemia
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