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C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma.
[waldenström macroglobulinemia]
The
C-X-C
chemokine
receptor
type
4
(
CXCR
4
)
plays
a
crucial
role
in
modulating
cell
trafficking
in
hematopoietic
stem
cells
and
clonal
B
cells
.
We
screened
418
patients
with
B-
cell
lymphoproliferative
disorders
and
described
the
presence
of
the
C
1013
G
/
CXCR
4
warts
,
hypogammaglobulinemia
,
infections
,
and
myelokathexis-associated
mutation
in
28
.
2
%
(
37
/
131
)
of
patients
with
lymphoplasmacytic
lymphoma
(
Waldenström
macroglobulinemia
[
WM
]
)
,
being
either
absent
or
present
in
only
7
%
of
other
B-
cell
lymphomas
.
In
vivo
functional
characterization
demonstrates
its
activating
role
in
WM
cells
,
as
demonstrated
by
significant
tumor
proliferation
and
dissemination
to
extramedullary
organs
,
leading
to
disease
progression
and
decreased
survival
.
The
use
of
a
monoclonal
antibody
anti-
CXCR
4
led
to
significant
tumor
reduction
in
a
C
1013
G
/
CXCR
4
WM
model
,
whereas
drug
resistance
was
observed
in
mutated
WM
cells
exposed
to
Bruton
's
tyrosine
kinase
,
mammalian
target
of
rapamycin
,
and
phosphatidylinositol
3
-
kinase
inhibitors
,
but
not
proteasome
inhibitors
.
These
findings
demonstrate
that
C
1013
G
/
CXCR
4
is
an
activating
mutation
in
WM
and
support
its
role
as
a
critical
regulator
of
WM
molecular
pathogenesis
and
as
an
important
therapeutic
target
.
Diseases
Validation
Diseases presenting
"hypogammaglobulinemia"
symptom
22q11.2 deletion syndrome
hirschsprung disease
kabuki syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
waldenström macroglobulinemia
This symptom has already been validated