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A random Abstract
Our Project
Our Team
Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma.
[hodgkin lymphoma, classical]
Classical
Hodgkin
lymphoma
and
primary
mediastinal
B
cell
lymphoma
(
PMBCL
)
are
related
lymphomas
sharing
pathological
,
molecular
and
clinical
characteristics
.
Here
we
discovered
by
whole-genome
and
whole-transcriptome
sequencing
recurrent
somatic
coding-sequence
mutations
in
the
PTPN
1
gene
.
Mutations
were
found
in
6
of
30
(
20
%
)
Hodgkin
lymphoma
cases
,
in
6
of
9
(
67
%
)
Hodgkin
lymphoma
-derived
cell
lines
,
in
17
of
77
(
22
%
)
PMBCL
cases
and
in
1
of
3
(
33
%
)
PMBCL-derived
cell
lines
,
consisting
of
nonsense
,
missense
and
frameshift
mutations
.
We
demonstrate
that
PTPN
1
mutations
lead
to
reduced
phosphatase
activity
and
increased
phosphorylation
of
JAK-STAT
pathway
members
.
Moreover
,
silencing
of
PTPN
1
by
RNA
interference
in
Hodgkin
lymphoma
cell
line
KM-H
2
resulted
in
hyperphosphorylation
and
overexpression
of
downstream
oncogenic
targets
.
Our
data
establish
PTPN
1
mutations
as
new
drivers
in
lymphomagenesis
.
Diseases
Validation
Diseases presenting
"hodgkin lymphoma"
symptom
esophageal adenocarcinoma
hodgkin lymphoma, classical
monosomy 21
primary effusion lymphoma
severe combined immunodeficiency
systemic capillary leak syndrome
waldenström macroglobulinemia
This symptom has already been validated
