Rare Diseases Symptoms Automatic Extraction
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Oncogene-induced senescence as a new mechanism of disease: the paradigm of erdheim-chester disease.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
is
a
rare
form
of
systemic
histiocytosis
characterized
by
the
diffuse
infiltration
of
tissues
by
lipid-laden
macrophages
.
As
the
clinical
course
and
prognosis
are
highly
influenced
by
site
of
disease
involvement
,
ECD
course
ranges
from
asymptomatic
to
life
threatening
,
with
a
reported
global
5
-
year
mortality
of
30
-
40
%
.
Whether
ECD
is
an
inflammatory
or
clonal
disease
in
its
nature
has
long
been
debated
.
The
disease
is
characterized
by
a
network
of
pro-
inflammatory
cyto
/
chemokines
responsible
for
the
recruitment
and
activation
of
histiocytes
into
ECD
lesions
,
similarly
to
what
reported
in
Langerhans
cell
histiocytosis
(
LCH
)
.
Growing
evidence
supports
a
central
role
of
the
oncogenic
BRAF
(
V
600
E
)
mutation
in
histiocytosis
pathogenesis
,
and
suggests
oncogene-induced
senescence
(
OIS
)
,
a
major
protective
mechanism
against
oncogenic
events
characterized
by
cell-cycle
arrest
and
the
induction
of
pro-
inflammatory
molecules
,
as
the
possible
link
between
the
oncogenic
mutation
and
the
observed
inflammation
.
Indeed
,
ECD
recapitulates
in
vivo
the
molecular
events
associated
with
OIS
,
i
.
e
.
,
cell-cycle
arrest
and
a
potent
local
inflammatory
response
.
Accordingly
,
the
infiltration
of
different
tissues
by
macrophages
and
the
inflammatory
local
and
systemic
effects
observed
in
ECD
likely
represent
a
drawback
of
OIS
.
Therefore
,
these
findings
delineate
a
new
conception
of
OIS
as
a
new
pathogenic
mechanism
intrinsically
responsible
for
disease
development
.
Diseases
Validation
Diseases presenting
"histiocytosis"
symptom
child syndrome
cutaneous mastocytosis
dentin dysplasia
dentinogenesis imperfecta
erdheim-chester disease
kallmann syndrome
lymphangioleiomyomatosis
omenn syndrome
papillon-lefèvre syndrome
This symptom has already been validated