serval:BIB_2768CC12F804
BCR and TLR signalling pathways are recurrently targeted by genetic changes in splenic marginal zone lymphomas.
10.3324/haematol.2011.054080
000303241600022
22102703
Yan
Y.
author
Huang
Y.
author
Watkins
A.J.
author
Kocialkowski
S.
author
Zeng
N.
author
Hamoudi
R.A.
author
Isaacson
P.G.
author
de Leval
L.
author
Wotherspoon
A.
author
Du
M.Q.
author
article
2011
Haematologica
0390-6078
1592-8721
journal
-
The genetics and pathogenesis of splenic marginal zone lymphoma are poorly understood. The lymphoma lacks chromosome translocation, and ~30% of cases are featured by 7q deletion, but the gene targeted by the deletion is unknown. A recent study showed inactivation of A20, a 'global' NF-kB negative regulator, in 1 of 12 splenic marginal zone lymphoma. To investigate further whether deregulation of the NF-kB pathway plays a role in the pathogenesis of splenic marginal zone lymphoma, we screened several NF-kB regulators for genetic changes by PCR and sequencing. Somatic mutations were found in A20 (6/46=13%), MYD88 (6/46=13%), CARD11 (3/34=8.8%), but not in CD79A, CD79B and ABIN1. Interestingly, these genetic changes are largely mutually exclusive from each other and MYD88 mutation was also mutually exclusive from 7q deletion. These results strongly suggest that deregulation of the TLR (toll like receptor) and BCR (B-cell receptor) signalling pathway may play an important role in the pathogenesis of splenic marginal zone lymphoma.
eng
60_published
true
peer-reviewed
University of Lausanne
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