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4. Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia

Author

Rossi, Davide, Fangazio, Marco, Rasi, Silvia, Vaisitti, Tiziana, Monti, Sara, Cresta, Stefania, Chiaretti, Sabina, Del Giudice, Ilaria, Fabbri, Giulia, Bruscaggin, Alessio, Spina, Valeria, Deambrogi, Clara, Marinelli, Marilisa, Famà, Rosella, Greco, Mariangela, Daniele, Giulia, Forconi, Francesco, Gattei, Valter, Bertoni, Francesco, Deaglio, Silvia, Pasqualucci, Laura, Guarini, Anna, Dalla-Favera, Riccardo, Foà, Robin, and Gaidano, Gianluca

Published
2012
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5. Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia

Author

Rossi, Davide, Rasi, Silvia, Fabbri, Giulia, Spina, Valeria, Fangazio, Marco, Forconi, Francesco, Marasca, Roberto, Laurenti, Luca, Bruscaggin, Alessio, Cerri, Michaela, Monti, Sara, Cresta, Stefania, Famà, Rosella, De Paoli, Lorenzo, Bulian, Pietro, Gattei, Valter, Guarini, Anna, Deaglio, Silvia, Capello, Daniela, Rabadan, Raul, Pasqualucci, Laura, Dalla-Favera, Riccardo, Foà, Robin, and Gaidano, Gianluca

Published
2012
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8. Alterations of negative regulators of cytokine signalling in immunodeficiency-related non-Hodgkin lymphoma

Author

Capello, Daniela, Gloghini, Annunziata, Baldanzi, Gianluca, Martini, Maurizio, Deambrogi, Clara, Lucioni, Marco, Piranda, Daniela, Famà, Rosella, Graziani, Andrea, Spina, Michele, Tirelli, Umberto, Paulli, Marco, Larocca Luigi Maria, Gaidano, Gianluca, Carbone, Antonino, Sinigaglia, Fabiola, Capello, Daniela, Gloghini, Annunziata, Baldanzi, Gianluca, Martini, Maurizio, Deambrogi, Clara, Lucioni, Marco, Piranda, Daniela, Famà, Rosella, Graziani, Andrea, Spina, Michele, Tirelli, Umberto, Paulli, Marco, Larocca, Luigi Maria, Gaidano, Gianluca, Carbone, Antonino, and Sinigaglia, Fabiola

Subjects
Cancer Research, Lymphoma, DNA Mutational Analysis, Suppressor of Cytokine Signaling Proteins, STAT Transcription Factor, Cell Line, Clonal Evolution, DNA Mutational Analysi, Neoplasm Protein, Immunodeficiency, PTPN6/SHP1, SOCS1, SOCS3, Tumor, Cytokines, DNA, Neoplasm, Humans, Immunocompromised Host, Janus Kinases, AIDS-Related, Lymphoproliferative Disorders, Mutation, Neoplasm Proteins, Organ Transplantation, Postoperative Complications, Protein Tyrosine Phosphatase, Non-Receptor Type 6, Retrospective Studies, STAT Transcription Factors, Signal Transduction, Suppressor of Cytokine Signaling 1 Protein, Suppressor of Cytokine Signaling 3 Protein, DNA Methylation, Hematology, Oncology, Retrospective Studie, Cell Line, Tumor, Suppressor of Cytokine Signaling Protein, Cytokine, Lymphoma, AIDS-Related, Protein Tyrosine Phosphatase, Non-Receptor Type 6, DNA, Neoplasm, Lymphoproliferative Disorder, Janus Kinase, Postoperative Complication, Human
Abstract

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. © 2012 John Wiley & Sons, Ltd.

Published
2013

9. Identification and functional characterization of a novel splicing variant in the F8coagulation gene causing severe hemophilia A

Author

Famà, Rosella, Borroni, Ester, Zanolini, Diego, Merlin, Simone, Bruscaggin, Valentina, Walker, Gillian E., Olgasi, Cristina, Babu, Deepak, Agnelli Giacchello, Jacopo, Valeri, Federica, Giordano, Mara, Borchiellini, Alessandra, and Follenzi, Antonia

Abstract

We have identified a synonymous F8variation in a severe hemophilia A (HA) patient who developed inhibitors following factor VIII (FVIII) prophylaxis. The unreported c.6273 G > A variant targets the consensussplicing site of exon 21.

Published
2020
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10. Ibrutinib-naïve chronic lymphocytic leukemia lacks Bruton tyrosine kinase mutations associated with treatment resistance

Author

Famà, Rosella, primary, Bomben, Riccardo, additional, Rasi, Silvia, additional, Dal Bo, Michele, additional, Ciardullo, Carmela, additional, Monti, Sara, additional, Rossi, Francesca, additional, D’Agaro, Tiziana, additional, Zucchetto, Antonella, additional, Gattei, Valter, additional, Gaidano, Gianluca, additional, and Rossi, Davide, additional

Published
2014
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11. The Coding Genome of Nodal Marginal Zone Lymphoma Reveals Recurrent Molecular Alterations of PTPRD and Other Jak/Stat Signaling Genes

Author

Spina, Valeria, primary, Khiabanian, Hossein, additional, Bruscaggin, Alessio, additional, Messina, Monica, additional, Monti, Sara, additional, Holmes, Antony B., additional, Chiaretti, Sabina, additional, Famà, Rosella, additional, Arcaini, Luca, additional, Lucioni, Marco, additional, Tabbò, Fabrizio, additional, Cresta, Stefania, additional, Rasi, Silvia, additional, Zairis, Sakellarios, additional, Ramponi, Antonio, additional, Marasca, Roberto, additional, Ponzoni, Maurilio, additional, Tiacci, Enrico, additional, Falini, Brunangelo, additional, Bertoni, Francesco, additional, Pasqualucci, Laura, additional, Foà, Robin, additional, Inghirami, Giorgio, additional, Rabadan, Raul, additional, Gaidano, Gianluca, additional, and Rossi, Davide, additional

Published
2014
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12. Molecular Lesions Of Signalling Pathway Genes In Indolent B-Cell Lymphoproliferations Mimicking Splenic Marginal Zone Lymphoma

Author

Rossi, Davide, primary, Bruscaggin, Alessio, additional, Monti, Sara, additional, Cresta, Stefania, additional, Famà, Rosella, additional, Arcaini, Luca, additional, Franceschetti, Silvia, additional, Lucioni, Marco, additional, Tabbò, Fabrizio, additional, Tiacci, Enrico, additional, Inghirami, Giorgio, additional, Paulli, Marco, additional, Falini, Brunangelo, additional, Foà, Robin, additional, and Gaidano, Gianluca, additional

Published
2013
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13. Clinical Impact Of Small TP53 Mutated Subclones In Chronic Lymphocytic Leukemia

Author

Rossi, Davide, primary, Khiabanian, Hossein, additional, Ciardullo, Carmela, additional, Spina, Valeria, additional, Bruscaggin, Alessio, additional, Famà, Rosella, additional, Monti, Sara, additional, Rasi, Silvia, additional, Wang, Jiguang, additional, Gattei, Valter, additional, Guarini, Anna, additional, FoÃ, Robin, additional, Rabadan, Raul, additional, and Gaidano, Gianluca, additional

Published
2013
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14. MGA, a suppressor ofMYC, is recurrently inactivated in high risk chronic lymphocytic leukemia

Author

De Paoli, Lorenzo, primary, Cerri, Michaela, additional, Monti, Sara, additional, Rasi, Silvia, additional, Spina, Valeria, additional, Bruscaggin, Alessio, additional, Greco, Mariangela, additional, Ciardullo, Carmela, additional, Famà, Rosella, additional, Cresta, Stefania, additional, Maffei, Rossana, additional, Ladetto, Marco, additional, Martini, Maurizio, additional, Laurenti, Luca, additional, Forconi, Francesco, additional, Marasca, Roberto, additional, Larocca, Luigi M., additional, Bertoni, Francesco, additional, Gaidano, Gianluca, additional, and Rossi, Davide, additional

Published
2012
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15. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development

Author

Rossi, Davide, primary, Trifonov, Vladimir, additional, Fangazio, Marco, additional, Bruscaggin, Alessio, additional, Rasi, Silvia, additional, Spina, Valeria, additional, Monti, Sara, additional, Vaisitti, Tiziana, additional, Arruga, Francesca, additional, Famà, Rosella, additional, Ciardullo, Carmela, additional, Greco, Mariangela, additional, Cresta, Stefania, additional, Piranda, Daniela, additional, Holmes, Antony, additional, Fabbri, Giulia, additional, Messina, Monica, additional, Rinaldi, Andrea, additional, Wang, Jiguang, additional, Agostinelli, Claudio, additional, Piccaluga, Pier Paolo, additional, Lucioni, Marco, additional, Tabbò, Fabrizio, additional, Serra, Roberto, additional, Franceschetti, Silvia, additional, Deambrogi, Clara, additional, Daniele, Giulia, additional, Gattei, Valter, additional, Marasca, Roberto, additional, Facchetti, Fabio, additional, Arcaini, Luca, additional, Inghirami, Giorgio, additional, Bertoni, Francesco, additional, Pileri, Stefano A., additional, Deaglio, Silvia, additional, Foà, Robin, additional, Dalla-Favera, Riccardo, additional, Pasqualucci, Laura, additional, Rabadan, Raul, additional, and Gaidano, Gianluca, additional

Published
2012
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16. Alterations of negative regulators of cytokine signalling in immunodeficiency-related non-Hodgkin lymphoma

Author

Capello, Daniela, primary, Gloghini, Annunziata, additional, Baldanzi, Gianluca, additional, Martini, Maurizio, additional, Deambrogi, Clara, additional, Lucioni, Marco, additional, Piranda, Daniela, additional, Famà, Rosella, additional, Graziani, Andrea, additional, Spina, Michele, additional, Tirelli, Umberto, additional, Paulli, Marco, additional, Larocca, Luigi Maria, additional, Gaidano, Gianluca, additional, Carbone, Antonino, additional, and Sinigaglia, Fabiola, additional

Published
2012
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17. Mutations of NOTCH1 Are An Independent Predictor of Survival in Chronic Lymphocytic Leukemia

Author

Rossi, Davide, primary, Rasi, Silvia, additional, Fabbri, Giulia, additional, Spina, Valeria, additional, Fangazio, Marco, additional, Forconi, Francesco, additional, Marasca, Roberto, additional, Laurenti, Luca, additional, Bruscaggin, Alessio, additional, Cerri, Michaela, additional, Monti, Sara, additional, Cresta, Stefania, additional, Famà, Rosella, additional, De Paoli, Lorenzo, additional, Bulian, Pietro, additional, Gattei, Valter, additional, Guarini, Anna, additional, Deaglio, Silvia, additional, Capello, Daniela, additional, Rabadan, Raul, additional, Pasqualucci, Laura, additional, Dalla-Favera, Riccardo, additional, Foà, Robin, additional, and Gaidano, Gianluca, additional

Published
2011
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18. MGA, a suppressor of MYC, is recurrently inactivated in high risk chronic lymphocytic leukemia.

Author

De Paoli, Lorenzo, Cerri, Michaela, Monti, Sara, Rasi, Silvia, Spina, Valeria, Bruscaggin, Alessio, Greco, Mariangela, Ciardullo, Carmela, Famà, Rosella, Cresta, Stefania, Maffei, Rossana, Ladetto, Marco, Martini, Maurizio, Laurenti, Luca, Forconi, Francesco, Marasca, Roberto, Larocca, Luigi M., Bertoni, Francesco, Gaidano, Gianluca, and Rossi, Davide

Subjects
CHRONIC lymphocytic leukemia, LEUKEMIA
Abstract

A letter to the editor is presented in response to the research study "MGA, a suppressor of MYC, Is Recurrently Inactivated in High Risk Chronic Lymphocytic Leukemia," which appeared in the previous issue.

Published
2013
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19. Clinical impact of small TP53mutated subclones in chronic lymphocytic leukemia

Author

Rossi, Davide, Khiabanian, Hossein, Spina, Valeria, Ciardullo, Carmela, Bruscaggin, Alessio, Famà, Rosella, Rasi, Silvia, Monti, Sara, Deambrogi, Clara, De Paoli, Lorenzo, Wang, Jiguang, Gattei, Valter, Guarini, Anna, Foà, Robin, Rabadan, Raul, and Gaidano, Gianluca

Abstract

TP53mutations are strong predictors of poor survival and refractoriness in chronic lymphocytic leukemia (CLL) and have direct implications for disease management. Clinical information on TP53mutations is limited to lesions represented in >20% leukemic cells. Here, we tested the clinical impact and prediction of chemorefractoriness of very small TP53mutated subclones. The TP53gene underwent ultra-deep-next generation sequencing (NGS) in 309 newly diagnosed CLL. A robust bioinformatic algorithm was established for the highly sensitive detection of few TP53mutated cells (down to 3 out of ∼1000 wild-type cells). Minor subclones were validated by independent approaches. Ultra-deep-NGS identified small TP53mutated subclones in 28/309 (9%) untreated CLL that, due to their very low abundance (median allele frequency: 2.1%), were missed by Sanger sequencing. Patients harboring small TP53mutated subclones showed the same clinical phenotype and poor survival (hazard ratio = 2.01; P= .0250) as those of patients carrying clonal TP53lesions. By longitudinal analysis, small TP53mutated subclones identified before treatment became the predominant population at the time of CLL relapse and anticipated the development of chemorefractoriness. This study provides a proof-of-principle that very minor leukemia subclones detected at diagnosis are an important driver of the subsequent disease course.

Published
2014
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20. Disruption of BIRC3associates with fludarabine chemorefractoriness in TP53wild-type chronic lymphocytic leukemia

Author

Rossi, Davide, Fangazio, Marco, Rasi, Silvia, Vaisitti, Tiziana, Monti, Sara, Cresta, Stefania, Chiaretti, Sabina, Del Giudice, Ilaria, Fabbri, Giulia, Bruscaggin, Alessio, Spina, Valeria, Deambrogi, Clara, Marinelli, Marilisa, Famà, Rosella, Greco, Mariangela, Daniele, Giulia, Forconi, Francesco, Gattei, Valter, Bertoni, Francesco, Deaglio, Silvia, Pasqualucci, Laura, Guarini, Anna, Dalla-Favera, Riccardo, Foà, Robin, and Gaidano, Gianluca

Abstract

The genetic lesions identified to date do not fully recapitulate the molecular pathogenesis of chronic lymphocytic leukemia (CLL) and do not entirely explain the development of severe complications such as chemorefractoriness. In the present study, BIRC3, a negative regulator of noncanonical NF-κB signaling, was investigated in different CLL clinical phases. BIRC3lesions were absent in monoclonal B-cell lymphocytosis (0 of 63) and were rare in CLL at diagnosis (13 of 306, 4%). Conversely, BIRC3disruption selectively affected 12 of 49 (24%) fludarabine-refractory CLL cases by inactivating mutations and/or gene deletions that distributed in a mutually exclusive fashion with TP53abnormalities. In contrast to fludarabine-refractory CLL, progressive but fludarabine-sensitive patients were consistently devoid of BIRC3abnormalities, suggesting that BIRC3genetic lesions associate specifically with a chemorefractory phenotype. By actuarial analysis in newly diagnosed CLL (n = 306), BIRC3disruption identified patients with a poor outcome similar to that associated with TP53abnormalities and exerted a prognostic role that was independent of widely accepted clinical and genetic risk factors. Consistent with the role of BIRC3as a negative regulator of NF-κB, biochemical studies revealed the presence of constitutive noncanonical NF-κB activation in fludarabine-refractory CLL patients harboring molecular lesions of BIRC3. These data identify BIRC3disruption as a recurrent genetic lesion of high-risk CLL devoid of TP53abnormalities.

Published
2012
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21. Mutations of NOTCH1are an independent predictor of survival in chronic lymphocytic leukemia

Author

Rossi, Davide, Rasi, Silvia, Fabbri, Giulia, Spina, Valeria, Fangazio, Marco, Forconi, Francesco, Marasca, Roberto, Laurenti, Luca, Bruscaggin, Alessio, Cerri, Michaela, Monti, Sara, Cresta, Stefania, Famà, Rosella, De Paoli, Lorenzo, Bulian, Pietro, Gattei, Valter, Guarini, Anna, Deaglio, Silvia, Capello, Daniela, Rabadan, Raul, Pasqualucci, Laura, Dalla-Favera, Riccardo, Foà, Robin, and Gaidano, Gianluca

Abstract

Analysis of the chronic lymphocytic leukemia (CLL) coding genome has recently disclosed that the NOTCH1proto-oncogene is recurrently mutated at CLL presentation. Here, we assessed the prognostic role of NOTCH1mutations in CLL. Two series of newly diagnosed CLL were used as training (n = 309) and validation (n = 230) cohorts. NOTCH1mutations occurred in 11.0% and 11.3% CLL of the training and validation series, respectively. In the training series, NOTCH1mutations led to a 3.77-fold increase in the hazard of death and to shorter overall survival (OS; P< .001). Multivariate analysis selected NOTCH1mutations as an independent predictor of OS after controlling for confounding clinical and biologic variables. The independent prognostic value of NOTCH1mutations was externally confirmed in the validation series. The poor prognosis conferred by NOTCH1mutations was attributable, at least in part, to shorter treatment-free survival and higher risk of Richter transformation. Although NOTCH1mutated patients were devoid of TP53disruption in more than 90% cases in both training and validation series, the OS predicted by NOTCH1mutations was similar to that of TP53mutated/deleted CLL. NOTCH1mutations are an independent predictor of CLL OS, tend to be mutually exclusive with TP53abnormalities, and identify cases with a dismal prognosis.

Published
2012
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22. The Coding Genome of Nodal Marginal Zone Lymphoma Reveals Recurrent Molecular Alterations of PTPRDand Other Jak/Stat Signaling Genes

Author

Spina, Valeria, Khiabanian, Hossein, Bruscaggin, Alessio, Messina, Monica, Monti, Sara, Holmes, Antony B., Chiaretti, Sabina, Famà, Rosella, Arcaini, Luca, Lucioni, Marco, Tabbò, Fabrizio, Cresta, Stefania, Rasi, Silvia, Zairis, Sakellarios, Ramponi, Antonio, Marasca, Roberto, Ponzoni, Maurilio, Tiacci, Enrico, Falini, Brunangelo, Bertoni, Francesco, Pasqualucci, Laura, Foà, Robin, Inghirami, Giorgio, Rabadan, Raul, Gaidano, Gianluca, and Rossi, Davide

Abstract

Background. Nodal marginal zone lymphoma (NMZL) is one of the few B-cell tumors still remaining orphan of cancer gene lesions. By combining whole exome sequencing (WES), deep sequencing of tumor-related genes, high resolution SNP array and RNAseq, here we aim at characterizing the coding genome of NMZL and at disclosing the pathways that are molecularly deregulated in this lymphoma.

Published
2014
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24. Mutations of NOTCH1Are An Independent Predictor of Survival in Chronic Lymphocytic Leukemia

Author

Rossi, Davide, Rasi, Silvia, Fabbri, Giulia, Spina, Valeria, Fangazio, Marco, Forconi, Francesco, Marasca, Roberto, Laurenti, Luca, Bruscaggin, Alessio, Cerri, Michaela, Monti, Sara, Cresta, Stefania, Famà, Rosella, De Paoli, Lorenzo, Bulian, Pietro, Gattei, Valter, Guarini, Anna, Deaglio, Silvia, Capello, Daniela, Rabadan, Raul, Pasqualucci, Laura, Dalla-Favera, Riccardo, Foà, Robin, and Gaidano, Gianluca

Abstract

Abstract 283

Published
2011
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25. Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy.

Author

Famà R, Borroni E, Merlin S, Airoldi C, Pignani S, Cucci A, Corà D, Bruscaggin V, Scardellato S, Faletti S, Pelicci G, Pinotti M, Walker GE, and Follenzi A

Subjects
Animals, Endothelial Cells, Genetic Therapy, Lentivirus genetics, Mice, Factor VIII genetics, Hemophilia A genetics, Hemophilia A therapy
Abstract

A major challenge in the development of a gene therapy for hemophilia A (HA) is the selection of cell type- or tissue-specific promoters to ensure factor VIII (FVIII) expression without eliciting an immune response. As liver sinusoidal endothelial cells (LSECs) are the major FVIII source, understanding the transcriptional F8 regulation in these cells would help optimize the minimal F8 promoter (pF8) to efficiently drive FVIII expression. In silico analyses predicted several binding sites (BS) for the E26 transformation-specific (Ets) transcription factors Ets-1 and Ets-2 in the pF8. Reporter assays demonstrated a significant up-regulation of pF8 activity by Ets-1 or Ets-1/Est-2 combination, while Ets2 alone was ineffective. Moreover, Ets-1/Ets-2-DNA binding domain mutants (DBD) abolished promoter activation only when the Ets-1 DBD was removed, suggesting that pF8 up-regulation may occur through Ets-1/Ets-2 interaction with Ets-1 bound to DNA. pF8 carrying Ets-BS deletions unveiled two Ets-BS essential for pF8 activity and response to Ets overexpression. Lentivirus-mediated delivery of GFP or FVIII cassettes driven by the shortened promoters led to GFP expression mainly in endothelial cells in the liver and to long-term FVIII activity without inhibitor formation in HA mice. These data strongly support the potential application of these promoters in HA gene therapy.

Published
2021
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26. Alterations of negative regulators of cytokine signalling in immunodeficiency-related non-Hodgkin lymphoma.

Author

Capello D, Gloghini A, Baldanzi G, Martini M, Deambrogi C, Lucioni M, Piranda D, Famà R, Graziani A, Spina M, Tirelli U, Paulli M, Larocca LM, Gaidano G, Carbone A, and Sinigaglia F

Subjects
Cell Line, Tumor, Clonal Evolution, DNA Mutational Analysis, DNA, Neoplasm genetics, Humans, Immunocompromised Host, Janus Kinases physiology, Lymphoma, AIDS-Related physiopathology, Lymphoproliferative Disorders immunology, Lymphoproliferative Disorders physiopathology, Mutation, Neoplasm Proteins physiology, Organ Transplantation, Postoperative Complications immunology, Postoperative Complications physiopathology, Protein Tyrosine Phosphatase, Non-Receptor Type 6 physiology, Retrospective Studies, STAT Transcription Factors physiology, Signal Transduction, Suppressor of Cytokine Signaling 1 Protein, Suppressor of Cytokine Signaling 3 Protein, Suppressor of Cytokine Signaling Proteins physiology, Cytokines physiology, DNA Methylation, Lymphoma, AIDS-Related genetics, Lymphoproliferative Disorders genetics, Neoplasm Proteins genetics, Postoperative Complications genetics, Protein Tyrosine Phosphatase, Non-Receptor Type 6 genetics, Suppressor of Cytokine Signaling Proteins genetics
Abstract

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., (Copyright © 2012 John Wiley & Sons, Ltd.)

Published
2013
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