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TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival.
[lymphangioleiomyomatosis]
Tuberous
sclerosis
complex
(
TSC
)
is
caused
by
mutations
in
TSC
1
or
TSC
2
genes
.
Lymphangioleiomyomatosis
(
LAM
)
can
be
sporadic
or
associated
with
TSC
and
is
characterized
by
widespread
pulmonary
proliferation
of
abnormal
α-smooth
muscle
(
ASM
)
-
like
cells
.
We
investigated
the
features
of
ASM
cells
isolated
from
chylous
thorax
of
a
patient
affected
by
LAM
associated
with
TSC
,
named
LAM
/
TSC
cells
,
bearing
a
germline
TSC
2
mutation
and
an
epigenetic
defect
causing
the
absence
of
tuberin
.
Proliferation
of
LAM
/
TSC
cells
is
epidermal
growth
factor
(
EGF
)
-
dependent
and
blockade
of
EGF
receptor
causes
cell
death
as
we
previously
showed
in
cells
lacking
tuberin
.
LAM
/
TSC
cells
spontaneously
detach
probably
for
the
inactivation
of
the
focal
adhesion
kinase
(
FAK
)
/
Akt
/
mTOR
pathway
and
display
the
ability
to
survive
independently
from
adhesion
.
Non-adherent
LAM
/
TSC
cells
show
an
extremely
low
proliferation
rate
consistent
with
tumour
stem-cell
characteristics
.
Moreover
,
LAM
/
TSC
cells
bear
characteristics
of
stemness
and
secrete
high
amount
of
interleukin
(
IL
)
-
6
and
IL
-
8
.
Anti-
EGF
receptor
antibodies
and
rapamycin
affect
proliferation
and
viability
of
non-adherent
cells
.
In
conclusion
,
the
understanding
of
LAM
/
TSC
cell
features
is
important
in
the
assessment
of
cell
invasiveness
in
LAM
and
TSC
and
should
provide
a
useful
model
to
test
therapeutic
approaches
aimed
at
controlling
their
migratory
ability
.
