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Genome wide SNP array identified multiple mechanisms of genetic changes in Waldenstrom macroglobulinemia.
[waldenström macroglobulinemia]
SNP
array
(
SNPa
)
was
developed
to
detect
copy
number
alteration
(
CNA
)
and
loss
of
heterozygosity
(
LOH
)
without
copy
number
changes
,
CN-LOH
.
We
aimed
to
identify
novel
genomic
aberrations
using
SNPa
in
31
WM
with
paired
samples
.
Methylation
status
and
mutation
were
analyzed
on
target
genes
.
A
total
of
61
genetic
aberrations
were
observed
,
58
CNA
(
33
gains
,
25
losses
)
in
58
%
of
patients
and
CN-LOH
in
6
%
of
patients
.
The
CNA
were
widely
distributed
throughout
the
genome
,
including
12
recurrent
regions
and
identified
new
cryptic
clonal
chromosomal
lesions
that
were
mapped
.
Gene
set
expression
analysis
demonstrated
a
relationship
between
either
deletion
6
q
or
gain
of
chromosome
4
and
alteration
of
gene
expression
profiling
.
We
then
studied
methylation
status
and
sought
for
mutations
in
altered
regions
on
target
genes
.
We
observed
methylation
of
DLEU
7
on
chromosome
13
in
all
patients
(
n
 
=
 
12
)
with
WM
,
and
mutations
of
CD
79
B
/
CD
79
A
genes
(
17
q
region
)
,
a
key
component
of
the
BCR
pathway
,
in
15
%
of
cases
.
Most
importantly
,
higher
frequency
of
≥
3
CNA
was
observed
in
symptomatic
WM
.
In
conclusion
,
this
study
expands
the
view
of
the
genomic
complexity
of
WM
,
especially
in
symptomatic
WM
,
including
a
potentially
new
mechanism
of
gene
dysfunction
,
acquired
uniparental
disomy
/
CN-LOH
.
Finally
,
we
have
identified
new
potential
target
genes
in
WM
,
such
as
DLEU
7
and
CD
79
A
/
B
.
Diseases
Validation
Diseases presenting
"identified new cryptic clonal chromosomal lesions that were mapped"
symptom
waldenström macroglobulinemia
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