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Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia.
[waldenström macroglobulinemia]
Whole
genome
sequencing
has
revealed
activating
somatic
mutations
in
MYD
88
(
L
265
P
)
and
CXCR
4
in
Waldenström
macroglobulinemia
(
WM
)
.
CXCR
4
somatic
mutations
in
WM
are
the
first
ever
reported
in
human
cancer
and
are
similar
to
nonsense
(
NS
)
and
frameshift
(
FS
)
germline
mutations
found
in
warts
,
hypogammaglobulinemia
,
infections
and
myelokathexis
(
WHIM
)
syndrome
.
We
genotyped
lymphoplasmacytic
cells
from
175
WM
patients
and
observed
significantly
higher
bone
marrow
(
BM
)
disease
involvement
,
serum
immunoglobulin-
M
levels
,
and
symptomatic
disease
requiring
therapy
,
including
hyperviscosity
syndrome
in
those
patients
with
MYD
88
(
L
265
P
)
CXCR
4
(
WHIM
/
NS
)
mutations
(
P
<
.
03
)
.
Patients
with
MYD
88
(
L
265
P
)
CXCR
4
(
WHIM
/
FS
)
or
MYD
88
(
L
265
P
)
CXCR
4
(
WILDTYPE
(
WT
)
)
had
intermediate
BM
and
serum
immunoglobulin-
M
levels
;
those
with
MYD
88
(
WT
)
CXCR
4
(
WT
)
showed
lowest
BM
disease
burden
.
Fewer
patients
with
MYD
88
(
L
265
P
)
and
CXCR
4
(
WHIM
/
FS
or
NS
)
vs
MYD
88
(
L
265
P
)
CXCR
4
(
WT
)
presented
with
adenopathy
(
P
<
.
01
)
,
further
delineating
differences
in
disease
tropism
based
on
CXCR
4
status
.
Neither
MYD
88
nor
CXCR
4
mutations
correlated
with
SDF-
1
a
(
RS
1
801157
)
polymorphisms
in
54
patients
who
were
genotyped
for
these
variants
.
Unexpectedly
,
risk
of
death
was
not
impacted
by
CXCR
4
mutation
status
,
but
by
MYD
88
(
WT
)
status
(
hazard
ratio
10
.
54
;
95
%
confidence
interval
2
.
4
-
46
.
2
,
P
=
.
0018
)
.
Somatic
mutations
in
MYD
88
and
CXCR
4
are
important
determinants
of
clinical
presentation
and
impact
overall
survival
in
WM
.
Targeted
therapies
directed
against
MYD
88
and
/
or
CXCR
4
signaling
may
provide
a
personalized
treatment
approach
to
WM
.
Diseases
Validation
Diseases presenting
"cxcr4 are important determinants of clinical presentation and impact overall survival in wm"
symptom
waldenström macroglobulinemia
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