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Identification of KIT activating mutations in paediatric solitary mastocytoma.
[cutaneous mastocytosis]
Mastocytosis
is
an
abnormal
mast
cell
proliferation
involving
one
or
more
organs
,
in
particular
the
skin
and
bone
marrow
.
In
children
,
disease
is
usually
limited
to
the
skin
,
with
three
distinct
clinical
presentations
:
urticaria
pigmentosa
,
diffuse
cutaneous
mastocytosis
and
solitary
mastocytoma
.
Although
the
KIT
D
816
V
mutation
is
typically
found
in
adult-onset
mastocytosis
,
it
is
less
commonly
seen
in
childhood-onset
mastocytosis
,
and
the
frequency
of
KIT
mutations
in
paediatric
solitary
mastocytoma
is
poorly
documented
.
In
this
study
we
analysed
KIT
exons
8
,
9
,
11
,
13
and
17
in
nine
cases
of
paediatric
solitary
mastocytoma
using
a
laboratory-developed
Sanger
sequencing
assay
.
A
KIT
mutation
was
identified
in
six
cases
(
67
%
)
,
including
three
with
the
D
816
V
mutation
typical
of
adult-onset
disease
,
and
another
three
with
an
internal
tandem
duplication
(
p
.
A
502
_
Y
503
dup
)
in
exon
9
,
previously
described
in
gastrointestinal
stromal
tumour
.
Paediatric
solitary
mastocytoma
is
frequently
associated
with
KIT
activating
mutations
,
in
keeping
with
a
clonal
process
.
KIT
mutational
status
appears
insufficient
to
explain
the
divergent
biology
of
childhood
and
adult-onset
disease
.
Diseases
Validation
Diseases presenting
"kit activating mutations"
symptom
cutaneous mastocytosis
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