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Frequent activating HRAS mutations in trichilemmoma.
[cowden syndrome]
Trichilemmoma
is
a
benign
follicular
epithelial
tumour
exhibiting
outer
root
sheath
differentiation
.
It
is
associated
with
Cowden
syndrome
and
naevus
sebaceus
(
NS
)
,
but
the
pathogenesis
of
sporadic
tumours
is
poorly
understood
.
Recently
,
NS
was
found
to
be
caused
by
postzygotic
HRAS
or
KRAS
mutations
.
We
sought
to
determine
whether
NS
-related
and
NS
-unrelated
trichilemmomas
harbour
RAS
mutations
.
F
ormalin-fixed
and
paraffin-embedded
blocks
of
12
NS
-related
and
15
NS
-unrelated
trichilemmomas
from
26
individuals
were
retrieved
and
analysed
to
determine
the
presence
of
mutations
in
exons
1
and
2
of
the
HRAS
,
KRAS
and
NRAS
genes
by
polymerase
chain
reaction
and
direct
sequencing
.
Mutational
hotspots
of
the
FGFR
3
and
PIK
3
CA
genes
were
also
analysed
for
NS
-unrelated
cases
.
Among
the
27
cases
,
mutually
exclusive
HRAS
c
.
37
G
>
C
and
c
.
182
A
>
G
mutations
were
observed
in
17
and
three
tumours
,
respectively
.
Of
the
12
NS
-related
tumours
,
11
(
92
%
)
harboured
the
HRAS
c
.
37
G
>
C
substitution
.
Of
the
15
sporadic
tumours
,
nine
(
60
%
)
harboured
HRAS
mutations
,
including
six
c
.
37
G
>
C
and
three
c
.
182
A
>
G
.
An
HRAS
c
.
182
A
>
G
mutation
was
observed
only
in
sporadic
tumours
.
No
mutations
were
observed
in
the
other
genes
that
were
tested
.
The
high
frequency
of
HRAS
activating
mutations
,
including
the
c
.
182
A
>
G
substitution
,
which
was
rather
rare
in
NS
,
suggests
that
most
trichilemmomas
are
authentic
neoplasms
.
Diseases
Validation
Diseases presenting
"postzygotic hras or kras mutations"
symptom
cowden syndrome
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