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Diagnostic application of PIK3CA mutation analysis in Chinese esophageal cancer patients.
[esophageal carcinoma]
The
PIK
3
CA
gene
mutation
was
found
to
associate
with
prognosis
and
might
affect
molecular
targeted
therapy
in
esophageal
carcinoma
(
EC
)
.
The
aim
of
this
study
is
to
compare
different
methods
for
analyzing
the
PIK
3
CA
gene
mutation
in
EC
.
Genomic
DNA
was
extracted
from
106
surgically
resected
EC
patient
tissues
.
The
PIK
3
CA
mutation
status
(
exons
9
and
20
)
were
screened
by
mutant-enrich
liquid
chip
(
ME
-Liquidchip
)
,
Sanger
sequencing
,
and
pyrosequencing
.
And
all
samples
with
mutations
were
independently
reassessed
using
amplification
refractory
mutation
system
(
ARMS
)
methods
again
.
PIK
3
CA
mutation
rates
were
identified
as
11
.
3
%
(
12
/
106
)
by
ME
-Liquidchip
.
10
mutations
occurred
in
exon
9
and
2
in
exon
20
,
including
G
1624
A
:
E
542
K
(
n
 
=
 
4
)
,
G
1633
A
:
E
545
K
(
n
 
=
 
6
)
and
A
3140
G
:
H
1047
R
(
n
 
=
 
2
)
.
The
results
were
further
verified
by
ARMS
methods
.
Among
these
12
cases
characterized
for
PIK
3
CA
mutation
,
however
,
only
7
and
6
cases
were
identified
by
Sanger
sequencing
(
6
.
6
%
,
7
/
106
)
and
pyrosequencing
(
5
.
7
%
,
6
/
106
)
,
respectively
.
Sanger
sequencing
and
pyrosequencing
are
less
sensitive
and
are
not
efficiently
applicable
to
the
detection
of
PIK
3
CA
mutation
in
EC
samples
.
Choosing
between
ME
-Liquidchip
and
ARMS
will
depend
on
laboratory
facilities
and
expertise
.
The
virtual
slide
(
s
)
for
this
article
can
be
found
here
:
http
:
/
/
www
.
diagnosticpathology
.
diagnomx
.
eu
/
vs
/
13000
_
2014
_
153
.
