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BRAFV600E-mutation is invariably present and associated to oncogene-induced senescence in Erdheim-Chester disease.
[erdheim-chester disease]
Erdheim-
Chester
disease
(
ECD
)
is
a
rare
form
of
histiocytosis
characterised
by
uncontrolled
chronic
inflammation
.
The
oncogenic
BRAF
(
V
600
E
)
mutation
has
been
reported
in
biopsies
in
19
out
of
37
patients
with
ECD
from
the
largest
published
cohort
,
but
never
found
in
the
patients
'
peripheral
blood
.
Also
,
the
role
of
the
mutation
in
the
pathogenesis
of
the
disease
has
not
been
elucidated
yet
.
BRAF
(
V
600
E
)
has
been
associated
with
oncogene-induced
senescence
(
OIS
)
,
a
protective
mechanism
against
oncogenic
events
,
characterised
by
the
induction
of
proinflammatory
pathways
.
We
verified
the
BRAF
status
in
biopsies
and
peripheral
blood
from
18
patients
with
ECD
from
our
cohort
and
matched
controls
by
means
of
immunohistochemistry
and
of
an
ultrasensitive
assay
,
based
on
the
combination
of
a
locked
nucleic
acid
PCR
and
pyrosequencing
.
Droplet
digital
PCR
was
used
to
confirm
the
findings
.
We
also
evaluated
the
presence
of
senescence
markers
in
ECD
histiocytes
.
BRAF
(
V
600
E
)
mutation
was
present
in
all
the
biopsy
and
peripheral
blood
samples
from
patients
with
ECD
and
in
none
of
the
controls
.
ECD
histiocytes
and
a
fraction
of
circulating
monocytes
from
patients
with
ECD
showed
signs
of
a
constitutive
activation
of
the
MAPK
pathway
.
Moreover
,
BRAF
-mutated
histiocytes
expressed
markers
of
OIS
.
T
he
oncogenic
BRAF
(
V
600
E
)
mutation
is
present
in
biopsies
and
in
the
peripheral
blood
from
all
patients
with
ECD
who
were
evaluated
and
is
associated
with
OIS
.
These
findings
have
significant
implications
for
the
pathogenesis
,
diagnosis
and
treatment
of
ECD
.
Diseases
Validation
Diseases presenting
"peripheral blood"
symptom
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
aniridia
cohen syndrome
congenital toxoplasmosis
cutaneous mastocytosis
erdheim-chester disease
esophageal adenocarcinoma
esophageal squamous cell carcinoma
familial mediterranean fever
gm1 gangliosidosis
junctional epidermolysis bullosa
lamellar ichthyosis
monosomy 21
oligodontia
omenn syndrome
scrub typhus
severe combined immunodeficiency
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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