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The genomic landscape of Waldenstrom macroglobulinemia is characterized by highly recurring MYD88 and WHIM-like CXCR4 mutations, and small somatic deletions associated with B-cell lymphomagenesis.
[waldenström macroglobulinemia]
The
genetic
basis
for
Waldenström
macroglobulinemia
(
WM
)
remains
to
be
clarified
.
Although
6
q
losses
are
commonly
present
,
recurring
gene
losses
in
this
region
remain
to
be
defined
.
We
therefore
performed
whole
genome
sequencing
(
WGS
)
in
30
WM
patients
,
which
included
germline
/
tumor
sequencing
for
10
patients
.
Validated
somatic
mutations
occurring
in
>
10
%
of
patients
included
MYD
88
,
CXCR
4
,
and
ARID
1
A
that
were
present
in
90
%
,
27
%
,
and
17
%
of
patients
,
respectively
,
and
included
the
activating
mutation
L
265
P
in
MYD
88
and
warts
,
hypogammaglobulinemia
,
infection
,
and
myelokathexis-syndrome-like
mutations
in
CXCR
4
that
previously
have
only
been
described
in
the
germline
.
WGS
also
delineated
copy
number
alterations
(
CNAs
)
and
structural
variants
in
the
10
paired
patients
.
The
CXCR
4
and
CNA
findings
were
validated
in
independent
expansion
cohorts
of
147
and
30
WM
patients
,
respectively
.
Validated
gene
losses
due
to
CNAs
involved
PRDM
2
(
93
%
)
,
BTG
1
(
87
%
)
,
HIVEP
2
(
77
%
)
,
MKLN
1
(
77
%
)
,
PLEKHG
1
(
70
%
)
,
LYN
(
60
%
)
,
ARID
1
B
(
50
%
)
,
and
FOXP
1
(
37
%
)
.
Losses
in
PLEKHG
1
,
HIVEP
2
,
ARID
1
B
,
and
BCLAF
1
constituted
the
most
common
deletions
within
chromosome
6
.
Although
no
recurrent
translocations
were
observed
,
in
2
patients
deletions
in
6
q
corresponded
with
translocation
events
.
These
studies
evidence
highly
recurring
somatic
events
,
and
provide
a
genomic
basis
for
understanding
the
pathogenesis
of
WM
.
Diseases
Validation
Diseases presenting
"recurrent translocations"
symptom
dedifferentiated liposarcoma
pleomorphic liposarcoma
waldenström macroglobulinemia
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