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Spectrum and risk of neoplasia in Werner syndrome: a systematic review.
[werner syndrome]
Werner
syndrome
(
WS
)
is
an
autosomal
recessive
genetic
instability
and
progeroid
(
'
premature
aging
'
)
syndrome
which
is
associated
with
an
elevated
risk
of
cancer
.
Our
study
objectives
were
to
characterize
the
spectrum
of
neoplasia
in
WS
using
a
well-documented
study
population
,
and
to
estimate
the
type
-
specific
risk
of
neoplasia
in
WS
relative
to
the
general
population
.
We
obtained
case
reports
of
neoplasms
in
WS
patients
through
examining
previous
case
series
and
reviews
of
WS
,
as
well
as
through
database
searching
in
PubMed
,
Google
Scholar
,
and
J-EAST
,
a
search
engine
for
articles
from
Japan
.
We
defined
the
spectrum
(
types
and
sites
)
of
neoplasia
in
WS
using
all
case
reports
,
and
were
able
to
determine
neoplasm
type
-
specific
risk
in
Japan
WS
patients
by
calculating
standardized
incidence
and
proportionate
incidence
ratios
(
SIR
and
SPIR
,
respectively
)
relative
to
Osaka
Japan
prefecture
incidence
rates
.
We
used
a
newly
assembled
study
population
of
189
WS
patients
with
248
neoplasms
to
define
the
spectrum
of
neoplasia
in
WS
.
The
most
frequent
neoplasms
in
WS
patients
,
representing
2
/
3
of
all
reports
,
were
thyroid
neoplasms
,
malignant
melanoma
,
meningioma
,
soft
tissue
sarcomas
,
leukemia
and
pre-leukemic
conditions
of
the
bone
marrow
,
and
primary
bone
neoplasms
.
Cancer
risk
defined
by
SIRs
was
significantly
elevated
in
Japan
-resident
WS
patients
for
the
six
most
frequent
neoplasms
except
leukemia
,
ranging
from
53
.
5
-
fold
for
melanoma
of
the
skin
(
95
%
CI
:
24
.
5
,
101
.
6
)
to
8
.
9
(
95
%
CI
:
4
.
9
,
15
.
0
)
for
thyroid
neoplasms
.
Cancer
risk
as
defined
by
SPIR
was
also
significantly
elevated
for
the
most
common
malignancies
except
leukemia
.
WS
confers
a
strong
predisposition
to
several
specific
types
of
neoplasia
.
These
results
serve
as
a
guide
for
WS
clinical
care
,
and
for
additional
analyses
to
define
the
mechanistic
basis
for
cancer
in
WS
and
the
general
population
.
Diseases
Validation
Diseases presenting
"neoplasia"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
hodgkin lymphoma, classical
liposarcoma
lymphangioleiomyomatosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
pleomorphic liposarcoma
primary effusion lymphoma
pyomyositis
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated