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Detection of MYD88 L265P in peripheral blood of patients with Waldenström's Macroglobulinemia and IgM monoclonal gammopathy of undetermined significance.
[waldenström macroglobulinemia]
MYD
88
L
265
P
is
highly
prevalent
in
Waldenstrom
's
Macroglobulinemia
(
WM
)
and
IgM
monoclonal
gammopathy
of
unknown
significance
(
MGUS
)
.
We
investigated
whether
MYD
88
L
265
P
could
be
identified
by
peripheral
blood
(
PB
)
allele-
specific
PCR
.
MYD
88
L
265
P
was
detected
in
untreated
WM
(
114
/
118
;
96
.
6
%
)
;
previously
treated
WM
(
63
/
102
;
61
.
8
%
)
;
and
IgM
MGUS
(
5
/
12
;
41
.
7
%
)
but
in
none
of
3
hyper-
IgM
or
40
healthy
individuals
.
Median
PB
MYD
88
L
265
P
ΔCt
was
3
.
77
,
7
.
24
,
10
.
89
,
12
.
33
and
14
.
07
for
untreated
WM
,
previously
treated
WM
,
IgM
MGUS
,
hyper-
IgM
and
healthy
individuals
,
respectively
(
P
<
0
.
0001
)
.
For
the
232
IgM
MGUS
and
WM
patients
,
PB
MYD
88
L
265
P
ΔCt
moderately
correlated
to
bone
marrow
(
BM
)
disease
(
r
=
-
0
.
3553
;
P
<
0
.
0001
)
,
serum
IgM
(
r
=
-
0
.
3262
;
P
<
0
.
0001
)
and
hemoglobin
(
r
=
0
.
3005
;
P
<
0
.
0001
)
levels
.
PB
MYD
88
L
265
P
ΔCt
and
serum
IgM
correlated
similarly
with
BM
disease
burden
.
For
positive
patients
,
PB
MYD
88
L
265
P
ΔCt
was
<
6
.
5
in
100
/
114
(
88
%
)
untreated
WM
,
and
>
6
.
5
in
4
/
5
(
80
%
)
IgM
MGUS
patients
(
P
=
0
.
0034
)
.
Attainment
of
a
negative
PB
MYD
88
L
265
P
mutation
status
was
associated
with
lower
BM
disease
(
P
=
0
.
001
)
,
serum
IgM
(
P
=
0
.
019
)
and
higher
hemoglobin
(
P
=
0
.
004
)
levels
in
treated
patients
.
These
studies
show
the
feasibility
for
detecting
MYD
88
L
265
P
by
PB
examination
,
and
the
potential
for
PB
MYD
88
L
265
P
ΔCt
use
in
the
diagnosis
and
management
of
WM
patients
.
Diseases
Validation
Diseases presenting
"lower bm disease"
symptom
waldenström macroglobulinemia
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