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A reinvestigation of somatic hypermethylation at the PTEN CpG island in cancer cell lines.
[cowden syndrome]
PTEN
is
an
important
tumour
suppressor
gene
that
is
mutated
in
Cowden
syndrome
as
well
as
various
sporadic
cancers
.
CpG
island
hypermethylation
is
another
route
to
tumour
suppressor
gene
inactivation
,
however
,
the
literature
regarding
PTEN
hypermethylation
in
cancer
is
controversial
.
Furthermore
,
investigation
of
the
methylation
status
of
the
PTEN
CpG
island
is
challenging
due
to
sequence
homology
with
the
PTEN
pseudogene
,
PTENP
1
.
PTEN
shares
a
CpG
island
promoter
with
another
gene
known
as
KLLN
.
Here
we
present
a
thorough
reinvestigation
of
the
methylation
status
of
the
PTEN
CpG
island
in
DNA
from
colorectal
,
breast
,
ovarian
,
glioma
,
lung
and
haematological
cancer
cell
lines
.
U
sing
a
range
of
bisulphite-based
PCR
assays
we
investigated
6
regions
across
the
PTEN
CpG
island
.
We
found
that
regions
1
-
4
were
not
methylated
in
cancer
cell
lines
(
0
/
36
)
.
By
allelic
bisulphite
sequencing
and
pyrosequencing
methylation
was
detected
in
regions
5
and
6
in
colorectal
,
breast
and
haematological
cancer
cell
lines
.
However
,
methylation
detected
in
this
region
was
associated
with
the
PTENP
1
promoter
and
not
the
PTEN
CpG
island
.
We
show
that
methylation
of
the
PTEN
CpG
island
is
a
rare
event
in
cancer
cell
lines
and
that
apparent
methylation
most
likely
originates
from
homologous
regions
of
the
PTENP
1
pseudogene
promoter
.
Future
studies
should
utilize
assays
that
reliably
discriminate
between
PTEN
and
PTENP
1
to
avoid
data
misinterpretation
.
Diseases
Validation
Diseases presenting
"ptenp1"
symptom
cowden syndrome
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