Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
is
a
rare
histiocytic
disorder
that
is
challenging
to
diagnose
and
treat
.
We
performed
molecular
analysis
of
BRAF
in
the
largest
cohort
of
ECD
patients
studied
to
date
followed
by
N
/
KRAS
,
PIK
3
CA
,
and
AKT
1
mutational
analysis
in
BRAF
wild-
type
patients
.
Forty
-
six
of
80
(
57
.
5
%
)
of
patients
were
BRAFV
600
E
-
mutant
.
NRAS
mutations
were
detected
in
3
of
17
ECD
BRAFV
600
E
wild-
type
patients
.
PIK
3
CA
mutations
(
p
.
E
542
K
,
p
.
E
545
K
,
p
.
A
1046
T
,
and
p
.
H
1047
R
)
were
detected
in
7
of
55
patients
,
4
of
whom
also
had
BRAF
mutations
.
Mutant
NRAS
was
present
in
peripheral
blood
CD
14
(
+
)
cells
,
but
not
lymphoid
cells
,
from
an
NRASQ
61
R
mutant
patient
.
Our
results
underscore
the
central
role
of
RAS-RAF-MEK-ERK
activation
in
ECD
and
identify
an
important
role
of
activation
of
RAS-PI
3
K
-AKT
signaling
in
ECD
.
These
results
provide
a
rationale
for
targeting
mutant
RAS
or
PI
3
K
/
AKT
/
mTOR
signaling
in
the
subset
of
ECD
patients
with
NRAS
or
PIK
3
CA
mutations
.