Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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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
"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