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Towards personalised therapy for lymphangioleiomyomatosis: lessons from cancer.
[lymphangioleiomyomatosis]
Lymphangioleiomyomatosis
(
LAM
)
is
a
rare
cystic
,
destructive
lung
disease
occurring
almost
exclusively
in
females
.
Bi-allelic
inactivating
tuberous
sclerosis
complex
(
TSC
)
gene
mutations
occur
in
LAM
cells
,
resulting
in
activation
of
the
mTORC
1
pathway
.
Pivotal
clinical
trials
have
demonstrated
that
inhibition
of
mTORC
1
with
sirolimus
can
induce
a
partial
response
of
TSC-associated
tumours
and
decrease
the
rate
of
lung
function
decline
in
females
with
LAM
.
Many
parallels
have
been
identified
between
LAM
pathogenesis
and
neoplasia
.
Here
,
we
highlight
three
key
nodes
through
which
advances
in
cancer
therapy
can
streamline
future
innovation
in
clinical
LAM
research
with
parallels
to
breast
and
prostate
cancer
.
These
include
:
1
)
hormonally
targeted
therapies
to
achieve
true
disease-free
complete
remissions
;
2
)
the
use
of
vascular
endothelial
growth
factor
-
D
and
other
plasma
biomarkers
to
streamline
early
-phase
clinical
trials
;
and
3
)
the
utilisation
of
histological
and
molecular
features
of
biopsy
material
to
enable
patient
stratification
and
personalised
therapies
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated