Rare Diseases Symptoms Automatic Extraction
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Cowden syndrome complicated by a gastrointestinal stromal tumor.
[cowden syndrome]
To
our
knowledge
,
this
is
the
first
report
of
Cowden
syndrome
complicated
by
a
gastrointestinal
stromal
tumor
(
GIST
)
of
the
small
bowel
.
A
42
-
year
-old
female
patient
was
found
to
have
an
abdominal
mass
that
was
diagnosed
as
the
cause
of
anemia
and
was
surgically
extracted
.
The
surgical
specimen
was
found
to
be
a
GIST
.
During
the
same
period
,
the
patient
underwent
an
endoscopic
examination
of
the
entire
gastrointestinal
tract
.
She
was
also
diagnosed
as
having
Cowden
syndrome
based
on
gastrointestinal
polyps
and
skin
,
thyroid
and
breast
lesions
.
Cowden
syndrome
is
associated
with
germline
mutations
in
the
tumorsuppressor
gene
PTEN
.
PTEN
expression
may
be
essential
to
tumor
growth
and
is
a
predictive
biomarker
of
the
prognosis
of
both
diseases
.
The
present
report
of
such
a
case
is
expected
to
further
the
analysis
of
Cowden
syndrome
.
Diseases
Validation
Diseases presenting
"anemia"
symptom
22q11.2 deletion syndrome
alpha-thalassemia
canavan disease
child syndrome
coats disease
congenital toxoplasmosis
cowden syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dracunculiasis
erythropoietic protoporphyria
esophageal adenocarcinoma
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
omenn syndrome
scrub typhus
sneddon syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
This symptom has already been validated