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Detection of MYD88 L265P mutations in formalin-fixed and decalcified BM biopsies from patients with lymphoplasmacytic lymphoma.
[waldenström macroglobulinemia]
The
diagnosis
of
bone
marrow
(
BM
)
infiltration
by
Waldenström
macroglobulinemia
(
WM
)
/
lymphoplasmacytic
lymphoma
(
LPL
)
poses
a
diagnostic
challenge
in
hematopathology
.
No
definitive
morphology
or
immunophenotype
is
able
to
distinguish
between
infiltration
of
paraffin-embedded
BM
sections
by
WM
/
LPL
and
other
indolent
lymphomas
,
in
particular
those
of
the
splenic
marginal
zone
(
SMZL
)
which
may
also
show
plasmacytic
maturation
.
An
oncogenic
gain-of-function
mutation
(
L
265
P
)
in
the
human
MYD
88
gene
has
been
found
to
be
present
in
most
cases
of
WM
/
LPL
,
yet
is
absent
in
most
other
cases
of
B-
cell
chronic
lymphoproliferative
disorders
(
LPD
)
,
including
SMZL
.
Here
,
we
compare
two
newly
developed
diagnostic
protocols
for
detection
of
this
mutation
in
paraffin-embedded
archival
tissues
which
are
particularly
applicable
to
decalcified
BM
biopsies
.
Sanger
sequencing
can
easily
detect
levels
of
BM
infiltration
above
15
%
by
WM
lymphoplasmacytic
cells
,
while
the
allele-
specific
PCR
can
detect
the
L
265
P
mutation
in
BM
infiltrations
below
1
%
of
lymphoma
cells
.
We
show
that
these
methods
are
easily
applicable
to
archival
BM
specimens
and
markedly
improve
diagnostic
accuracy
of
BM
infiltrations
by
indolent
B-
cell
lymphomas
.
Diseases
Validation
Diseases presenting
"oncogenic gain-of-function mutation"
symptom
waldenström macroglobulinemia
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