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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
.
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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