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Prospective Blinded Study of BRAFV600E Mutation Detection in Cell-Free DNA of Patients with Systemic Histiocytic Disorders.
[erdheim-chester disease]
Patients
with
Langerhans
Cell
Histiocytosis
(
LCH
)
and
Erdheim-
Chester
Disease
(
ECD
)
have
a
high
frequency
of
BRAFV
600
E
mutations
and
respond
to
RAF
inhibitors
.
However
,
detection
of
mutations
in
tissue
biopsies
is
particularly
challenging
in
histiocytoses
due
to
low
tumor
content
and
stromal
contamination
.
We
applied
a
droplet-digitial
PCR
assay
for
quantitative
detection
of
the
BRAFV
600
E
mutation
in
plasma
and
urine
cell-free
(
cf
)
DNA
and
performed
a
prospective
,
blinded
study
in
30
ECD
/
LCH
patients
.
There
was
100
%
concordance
between
tissue
and
urinary
cfDNA
genotype
in
treatment
naïve
samples
.
cfDNA
analysis
facilitated
identification
of
previously
undescribed
KRASG
12
S
mutant
ECD
and
dynamically
tracked
disease
burden
in
patients
treated
with
a
variety
of
therapies
.
These
results
indicate
that
cfDNA
BRAFV
600
E
mutational
analysis
in
plasma
and
urine
provides
a
convenient
and
reliable
method
of
detecting
mutational
status
and
can
serve
as
a
non-invasive
biomarker
to
monitor
response
to
therapy
in
LCH
and
ECD
.
Diseases
Validation
Diseases presenting
"dynamically tracked disease burden in patients"
symptom
erdheim-chester disease
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