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Germline alterations in RASAL1 in Cowden syndrome patients presenting with follicular thyroid cancer and in individuals with apparently sporadic epithelial thyroid cancer.
[cowden syndrome]
RASAL
1
has
recently
been
identified
as
an
important
tumor
suppressor
for
sporadic
thyroid
tumorigenesis
,
particularly
for
follicular
thyroid
cancer
(
FTC
)
and
anaplastic
thyroid
cancer
.
Thyroid
cancer
is
an
important
component
of
Cowden
syndrome
(
CS
)
.
Patients
with
germline
PTEN
mutations
have
an
overrepresentation
of
FTC
over
other
histological
subtypes
.
To
determine
the
prevalence
of
germline
RASAL
1
mutations
in
PTEN
mutation
-
positive
and
wild
type
CS
patients
.
We
reviewed
our
prospective
database
of
more
than
3000
CS
/
CS
-like
patients
and
retrospectively
identified
a
subset
of
patients
who
presented
with
thyroid
cancer
for
RASAL
1
mutation
analysis
.
We
reviewed
data
from
The
Cancer
Genome
Atlas
(
TCGA
)
sporadic
papillary
thyroid
cancer
(
PTC
)
database
with
germline
data
for
RASAL
1
mutations
to
determine
the
prevalence
of
germline
RASAL
1
mutations
in
CS
-related
thyroid
cancer
patients
.
We
scanned
155
CS
/
CS
-like
patients
with
thyroid
cancer
for
germline
RASAL
1
mutations
.
Of
the
155
patients
,
39
had
known
germline
pathogenic
PTEN
mutations
(
PTEN
(
mut
+
)
)
and
116
were
PTEN
mutation
negative
(
PTEN
(
WT
)
)
.
Among
these
155
patients
,
we
identified
RASAL
1
germline
alterations
suspected
as
being
deleterious
in
two
patients
.
Both
were
patients
with
PTEN
(
WT
)
who
had
FTC
(
2
/
48
,
4
.
1
%
)
.
This
was
in
contrast
to
patients
with
PTEN
(
mut
+
)
who
had
thyroid
cancer
(
0
/
39
)
.
Of
339
sporadic
patients
with
PTC
from
the
TCGA
study
,
62
(
18
%
)
had
germline
RASAL
1
variants
predicted
to
be
deleterious
.
TCGA
patients
with
follicular-variant
PTC
were
statistically
overrepresented
(
21
/
62
,
34
%
)
among
patients
with
deleterious
RASAL
1
variants
compared
with
those
without
(
57
/
277
,
21
%
)
.
Germline
RASAL
1
alterations
are
uncommon
in
patients
with
CS
but
may
not
be
infrequent
in
patients
with
apparently
sporadic
follicular-variant
PTC
.
Diseases
Validation
Diseases presenting
"tumor suppressor"
symptom
aromatase deficiency
cowden syndrome
dedifferentiated liposarcoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
liposarcoma
proteus syndrome
von hippel-lindau disease
werner syndrome
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