Rare Diseases Symptoms Automatic Extraction
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BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
is
a
rare
histiocytosis
with
a
high
prevalence
of
BRAF
V
600
E
mutation
(
>
50
%
of
patients
)
.
Patients
with
BRAF
-mutant
ECD
can
respond
to
BRAF
inhibitors
.
Unfortunately
,
the
lack
of
adequate
archival
tissue
often
precludes
BRAF
testing
.
We
hypothesized
that
cell-free
DNA
(
cfDNA
)
from
plasma
or
urine
can
offer
an
alternative
source
of
biologic
material
for
testing
.
We
tested
for
BRAF
V
600
E
mutation
in
cfDNA
from
the
plasma
and
urine
of
6
ECD
patients
.
In
patients
with
available
archival
tissue
,
the
result
of
BRAF
mutation
analysis
was
concordant
with
plasma
and
urine
cfDNA
results
in
all
3
patients
(
100
%
agreement
,
kappa
1
.
00
)
.
In
all
6
patients
,
BRAF
mutation
analysis
of
plasma
and
urine
cfDNA
was
concordant
in
5
of
6
patients
(
83
%
agreement
,
kappa
0
.
67
)
.
Testing
for
BRAF
V
600
E
mutation
in
plasma
and
urine
cfDNA
should
be
further
investigated
as
an
alternative
to
archival
tissue
mutation
analysis
.