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A random Abstract
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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
[cowden syndrome]
PTEN
hamartoma
tumour
syndrome
(
PHTS
)
encompasses
several
clinical
syndromes
with
germline
mutations
in
the
PTEN
tumour
suppressor
gene
,
including
Cowden
syndrome
which
is
characterised
by
an
increased
risk
of
breast
and
thyroid
cancers
.
Because
PHTS
is
rare
,
data
regarding
cancer
risks
and
genotype-phenotype
correlations
are
limited
.
The
objective
of
this
study
was
to
better
define
cancer
risks
in
this
syndrome
with
respect
to
the
type
and
location
of
PTEN
mutations
.
154
PHTS
individuals
with
a
deleterious
germline
PTEN
mutation
were
recruited
from
the
activity
of
the
Institut
Bergonié
genetic
laboratory
.
Detailed
phenotypic
information
was
obtained
for
146
of
them
.
Age
and
sex
adjusted
standardised
incidence
ratio
(
SIR
)
calculations
,
cumulative
cancer
risk
estimations
,
and
genotype-phenotype
analyses
were
performed
.
Elevated
SIRs
were
found
mainly
for
female
breast
cancer
(
39
.
1
,
95
%
CI
24
.
8
to
58
.
6
)
,
thyroid
cancer
in
women
(
43
.
2
,
95
%
CI
19
.
7
to
82
.
1
)
and
in
men
(
199
.
5
,
95
%
CI
106
.
39
to
342
.
03
)
,
melanoma
in
women
(
28
.
3
,
95
%
CI
7
.
6
to
35
.
4
)
and
in
men
(
39
.
4
,
95
%
CI
10
.
6
to
100
.
9
)
,
and
endometrial
cancer
(
48
.
7
,
95
%
CI
9
.
8
to
142
.
3
)
.
Cumulative
cancer
risks
at
age
70
were
85
%
(
95
%
CI
70
%
to
95
%
)
for
any
cancer
,
77
%
(
95
%
CI
59
%
to
91
%
)
for
female
breast
cancer
,
and
38
%
(
95
%
CI
25
%
to
56
%
)
for
thyroid
cancer
.
The
risk
of
cancer
was
two
times
greater
in
women
with
PHTS
than
in
men
with
PHTS
(
p
<
0
.
05
)
.
This
study
shows
a
considerably
high
cumulative
risk
of
cancer
for
patients
with
PHTS
,
mainly
in
women
without
clear
genotype-phenotype
correlation
for
this
cancer
risk
.
New
recommendations
for
the
management
of
PHTS
patients
are
proposed
.
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
