Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
MYD88 L265P somatic mutation: its usefulness in the differential diagnosis of bone marrow involvement by B-cell lymphoproliferative disorders.
[waldenström macroglobulinemia]
To
examine
the
usefulness
of
the
MYD
88
L
265
P
somatic
mutation
in
identifying
cases
of
lymphoplasmacytic
lymphoma
(
LPL
)
from
other
lymphoplasmacytic
neoplasms
in
bone
marrow
biopsy
specimens
.
We
studied
64
bone
marrow
biopsy
specimens
with
involvement
by
various
small
B-
cell
lymphomas
or
plasma
cell
myeloma
.
The
MYD
88
L
265
P
somatic
mutation
was
present
in
13
/
13
cases
of
LPL
,
1
/
13
cases
of
hairy
cell
leukemia
,
and
absent
in
the
other
mature
B-
cell
neoplasms
tested
.
A
test
set
of
diagnostically
challenging
bone
marrow
cases
with
lymphoplasmacytoid
morphology
(
B-
cell
lymphoma
,
not
otherwise
specified
)
was
selected
for
additional
review
and
reclassified
,
without
knowledge
of
the
MYD
88
L
265
P
status
.
Of
those
16
cases
,
7
were
positive
for
MYD
88
,
including
4
/
4
cases
that
were
reclassified
as
LPL
during
the
review
.
Although
not
entirely
specific
,
MYD
88
L
265
P
is
a
useful
adjunct
for
bone
marrow
diagnosis
in
separating
LPL
from
other
small
B-
cell
lymphomas
and
plasma
cell
myeloma
.
Diseases
Validation
Diseases presenting
"leukemia"
symptom
canavan disease
cholangiocarcinoma
cutaneous mastocytosis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
junctional epidermolysis bullosa
kabuki syndrome
liposarcoma
monosomy 21
neuralgic amyotrophy
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
pyomyositis
severe combined immunodeficiency
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated