TY - JOUR
T1 - Alterations of negative regulators of cytokine signalling in immunodeficiency-related non-Hodgkin lymphoma
AU - Capello, Daniela
AU - Gloghini, Annunziata
AU - Baldanzi, Gianluca
AU - Martini, Maurizio
AU - Deambrogi, Clara
AU - Lucioni, Marco
AU - Piranda, Daniela
AU - Famà, Rosella
AU - Graziani, Andrea
AU - Spina, Michele
AU - Tirelli, Umberto
AU - Paulli, Marco
AU - Larocca, Luigi Maria
AU - Gaidano, Gianluca
AU - Carbone, Antonino
AU - Sinigaglia, Fabiola
PY - 2013/3
Y1 - 2013/3
N2 - We investigated immunodeficiency-related non-Hodgkin lymphoma for the presence of molecular alterations affecting negative regulators of the Janus family protein tyrosine kinase/signal transducer and activator of transcription pathway. Protein tyrosine phosphatase, non-receptor type 6/Src homology 2-containing tyrosine phosphatase-1 epigenetic silencing was recurrent in primary effusion lymphoma (100%), and diffuse large B-cell lymphoma (63%), with a higher prevalence in the non-germinal centre subtype, and was associated with the activation of the Janus family protein tyrosine kinase/signal transducer and activator of transcription 3 pathway. Suppressor of cytokine signalling (SOCS)1 and SOCS3 epigenetic silencing were occasionally detected, whereas SOCS1 was frequently mutated in diffuse large B-cell lymphoma and polymorphic post-transplant lymphoproliferative disorders, possibly as a cause of aberrant somatic hypermutation. However, the mutation profile of the coding region of the gene was different from that expected from the aberrant somatic hypermutation process, suggesting that, at least in some cases, SOCS1 mutations may have been selected for their functional activity.
AB - We investigated immunodeficiency-related non-Hodgkin lymphoma for the presence of molecular alterations affecting negative regulators of the Janus family protein tyrosine kinase/signal transducer and activator of transcription pathway. Protein tyrosine phosphatase, non-receptor type 6/Src homology 2-containing tyrosine phosphatase-1 epigenetic silencing was recurrent in primary effusion lymphoma (100%), and diffuse large B-cell lymphoma (63%), with a higher prevalence in the non-germinal centre subtype, and was associated with the activation of the Janus family protein tyrosine kinase/signal transducer and activator of transcription 3 pathway. Suppressor of cytokine signalling (SOCS)1 and SOCS3 epigenetic silencing were occasionally detected, whereas SOCS1 was frequently mutated in diffuse large B-cell lymphoma and polymorphic post-transplant lymphoproliferative disorders, possibly as a cause of aberrant somatic hypermutation. However, the mutation profile of the coding region of the gene was different from that expected from the aberrant somatic hypermutation process, suggesting that, at least in some cases, SOCS1 mutations may have been selected for their functional activity.
KW - Immunodeficiency
KW - Lymphoma
KW - PTPN6/SHP1
KW - SOCS1
KW - SOCS3
UR - http://www.scopus.com/inward/record.url?scp=84874933904&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84874933904&partnerID=8YFLogxK
U2 - 10.1002/hon.2010
DO - 10.1002/hon.2010
M3 - Article
C2 - 22488585
AN - SCOPUS:84874933904
VL - 31
SP - 22
EP - 28
JO - Hematological Oncology
JF - Hematological Oncology
SN - 0278-0232
IS - 1
ER -