Rare Diseases Symptoms Automatic Extraction
Home
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
"mutations in the ptpn1 gene"
symptom
hodgkin lymphoma, classical
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom
