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When Overgrowth Bumps Into Cancer: The PTEN-Opathies.
[cowden syndrome]
PTEN
is
a
dual-specificity
phosphatase
and
well-known
tumor
suppressor
gene
.
When
functioning
properly
,
it
works
in
its
canonical
pathway
to
inhibit
AKT
/
mTOR
and
MAPK
signaling
,
leading
to
cell
death
and
growth
regulation
.
PTEN
mutations
cause
dysregulation
of
these
pathways
,
resulting
in
cellular
proliferation
and
overgrowth
.
When
germline
mutations
are
present
as
in
patients
with
PTEN
Hamartoma
Tumor
Syndrome
(
PHTS
)
,
benign
and
malignant
neoplasias
occur
as
well
as
cerebral
overgrowth
and
neurodevelopmental
abnormalities
.
This
review
article
will
summarize
recent
laboratory
and
clinical
investigations
relating
to
PTEN
,
highlighting
the
overgrowth
aspects
of
this
syndrome
and
the
molecular
drivers
behind
these
key
phenotypes
.
Finally
,
therapies
developed
targeted
the
PI
3
K
/
AKT
/
mTOR
pathway
for
other
tumor
predisposition
syndromes
will
be
discussed
.
©
2013
Wiley
Periodicals
,
Inc
.