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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
"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