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Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation.
[erdheim-chester disease]
Histiocytoses
are
rare
disorders
of
unknown
origin
with
highly
heterogeneous
prognosis
.
BRAFV
600
E
gain-of-function
mutations
have
been
observed
in
57
%
of
cases
of
Langerhans
cell
histiocytosis
(
LCH
)
and
54
%
of
cases
of
Erdheim-
Chester
disease
(
ECD
)
,
but
not
in
other
types
of
histiocytoses
.
Targeted
therapy
with
an
inhibitor
of
mutated
BRAF
(
vemurafenib
)
improves
survival
of
patients
with
melanoma
.
Here
,
we
report
vemurafenib
treatment
of
3
patients
with
multisystemic
and
refractory
ECD
carrying
the
BRAFV
600
E
mutation
;
2
also
had
skin
or
lymph
node
LCH
involvement
.
The
patients
were
assessed
clinically
,
biologically
(
CRP
values
)
,
histologically
(
skin
biopsy
)
,
and
morphologically
(
positron
emission
tomography
[
PET
]
,
computed
tomography
and
magnetic
resonance
imaging
)
.
For
all
patients
,
vemurafenib
treatment
led
to
substantial
and
rapid
clinical
and
biologic
improvement
,
and
the
tumor
response
was
confirmed
by
PET
,
computed
tomography
,
and
/
or
magnetic
resonance
imaging
1
month
after
treatment
initiation
.
For
the
first
patient
treated
,
the
PET
response
increased
between
months
1
and
4
of
treatment
.
The
treatment
remained
effective
after
4
months
of
follow-up
although
persistent
disease
activity
was
still
observed
.
Treatment
with
vemurafenib
,
a
newly
approved
BRAF
inhibitor
,
should
be
considered
for
patients
with
severe
and
refractory
BRAFV
600
E
histiocytoses
,
particularly
when
the
disease
is
life-threatening
.
Diseases
Validation
Diseases presenting
"melanoma"
symptom
achondroplasia
carcinoma of the gallbladder
cowden syndrome
cutaneous mastocytosis
cystinuria
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal squamous cell carcinoma
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
oculocutaneous albinism
papillon-lefèvre syndrome
pleomorphic liposarcoma
proteus syndrome
severe combined immunodeficiency
werner syndrome
wiskott-aldrich syndrome
This symptom has already been validated