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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
.
Diseases
Validation
Diseases presenting
"peripheral blood"
symptom
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
aniridia
cohen syndrome
congenital toxoplasmosis
cutaneous mastocytosis
erdheim-chester disease
esophageal adenocarcinoma
esophageal squamous cell carcinoma
familial mediterranean fever
gm1 gangliosidosis
junctional epidermolysis bullosa
lamellar ichthyosis
monosomy 21
oligodontia
omenn syndrome
scrub typhus
severe combined immunodeficiency
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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