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High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.
[erdheim-chester disease]
Histiocytoses
are
rare
disorders
of
unknown
origin
with
highly
heterogeneous
prognosis
.
BRAF
mutations
have
been
observed
in
Langerhans
cell
histiocytosis
(
LCH
)
.
We
investigated
the
frequency
of
BRAF
mutations
in
several
types
of
histiocytoses
.
Histology
from
127
patients
with
histiocytoses
were
reviewed
.
Detection
of
BRAF
(
V
600
)
mutations
was
performed
by
pyrosequencing
of
DNA
extracted
from
paraffin
embedded
samples
.
Diagnoses
of
Erdheim-
Chester
disease
(
ECD
)
,
LCH
,
Rosai-
Dorfman
disease
,
juvenile
xanthogranuloma
,
histiocytic
sarcoma
,
xanthoma
disseminatum
,
interdigitating
dendritic
cell
sarcoma
,
and
necrobiotic
xanthogranuloma
were
performed
in
46
,
39
,
23
,
12
,
3
,
2
,
1
,
and
1
patients
,
respectively
.
BRAF
status
was
obtained
in
93
cases
.
BRAF
(
V
600
E
)
mutations
were
detected
in
13
of
24
(
54
%
)
ECD
,
11
of
29
(
38
%
)
LCH
,
and
none
of
the
other
histiocytoses
.
Four
patients
with
ECD
died
of
disease
.
The
high
frequency
of
BRAF
(
V
600
E
)
in
LCH
and
ECD
suggests
a
common
origin
of
these
diseases
.
Treatment
with
vemurafenib
should
be
investigated
in
patients
with
malignant
BRAF
(
V
600
E
)
histiocytosis
.
Diseases
Validation
Diseases presenting
"and necrobiotic xanthogranuloma were performed in 46"
symptom
erdheim-chester disease
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