Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis.
[cutaneous mastocytosis]
The
recent
progress
in
sensitive
KIT
D
816
V
mutation
analysis
suggests
that
mutation
analysis
of
peripheral
blood
(
PB
)
represents
a
promising
diagnostic
test
in
mastocytosis
.
However
,
there
is
a
need
for
systematic
assessment
of
the
analytical
sensitivity
and
specificity
of
the
approach
in
order
to
establish
its
value
in
clinical
use
.
We
therefore
evaluated
sensitive
KIT
D
816
V
mutation
analysis
of
PB
as
a
diagnostic
test
in
an
entire
case-series
of
adults
with
mastocytosis
.
We
demonstrate
for
the
first
time
that
by
using
a
sufficiently
sensitive
KIT
D
816
V
mutation
analysis
,
it
is
possible
to
detect
the
mutation
in
PB
in
nearly
all
adult
mastocytosis
patients
.
The
mutation
was
detected
in
PB
in
78
of
83
systemic
mastocytosis
(
94
%
)
and
3
of
4
cutaneous
mastocytosis
patients
(
75
%
)
.
The
test
was
100
%
specific
as
determined
by
analysis
of
clinically
relevant
control
patients
who
all
tested
negative
.
Mutation
analysis
of
PB
was
significantly
more
sensitive
than
serum
tryptase
>
20
ng
/
mL
.
Of
27
patients
with
low
tryptase
,
26
tested
mutation
positive
(
96
%
)
.
The
test
is
furthermore
readily
available
and
we
consider
the
results
to
serve
as
a
foundation
of
experimental
evidence
to
support
the
inclusion
of
the
test
in
diagnostic
algorithms
and
clinical
practice
in
mastocytosis
.