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Everolimus in the treatment of subependymal giant cell astrocytomas, angiomyolipomas, and pulmonary and skin lesions associated with tuberous sclerosis complex.
[lymphangioleiomyomatosis]
Tuberous
sclerosis
complex
(
TSC
)
is
an
autosomal
dominant
genetic
disorder
caused
by
inactivating
mutations
in
either
the
TSC
1
or
TSC
2
genes
.
It
is
characterized
by
the
development
of
multiple
,
benign
tumors
in
several
organs
throughout
the
body
.
Lesions
occur
in
the
brain
,
kidneys
,
heart
,
liver
,
lungs
,
and
skin
and
result
in
seizures
and
epilepsy
,
mental
retardation
,
autism
,
and
renal
and
pulmonary
organ
system
dysfunction
,
as
well
as
other
complications
.
Elucidation
of
the
molecular
pathways
and
etiological
factors
responsible
for
causing
TSC
has
led
to
a
paradigm
shift
in
the
management
and
treatment
of
the
disease
.
TSC
1
or
TSC
2
mutations
lead
to
constitutive
upregulation
of
the
mammalian
target
of
rapamycin
pathway
,
which
affects
many
cellular
processes
involved
in
tumor
growth
.
By
targeting
mammalian
target
of
rapamycin
with
everolimus
,
an
orally
active
rapamycin
derivative
,
clinically
meaningful
and
statistically
significant
reductions
in
tumor
burden
have
been
achieved
for
the
main
brain
(
subependymal
giant
cell
astrocytoma
)
and
renal
manifestations
(
angiomyolipoma
)
associated
with
TSC
.
This
review
provides
an
overview
of
TSC
,
everolimus
,
and
the
clinical
trials
that
led
to
its
approval
for
the
treatment
of
TSC-associated
subependymal
giant
cell
astrocytoma
and
renal
angiomyolipoma
.
Diseases
Validation
Diseases presenting
"tumor growth"
symptom
adrenal incidentaloma
carcinoma of the gallbladder
cholangiocarcinoma
cowden syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
liposarcoma
lymphangioleiomyomatosis
primary effusion lymphoma
severe combined immunodeficiency
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
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