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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
"blood samples"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kallmann syndrome
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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