Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome

Characterization of the pattern of clonal evolution from CLL to RS, the genetic determinants of CLL transformation to RS, and the pathogenetic relationship between RS and classical non–CLL-associated de novo DLBCL.

[1]  Ken Chen,et al.  Clonal architecture of secondary acute myeloid leukemia. , 2012, The New England journal of medicine.

[2]  K. Akashi,et al.  Self-renewing hematopoietic stem cell is the primary target in pathogenesis of human chronic lymphocytic leukemia. , 2011, Cancer cell.

[3]  Govind Bhagat,et al.  Combined genetic inactivation of β2-Microglobulin and CD58 reveals frequent escape from immune recognition in diffuse large B cell lymphoma. , 2011, Cancer cell.

[4]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[5]  Davide Rossi,et al.  Biological and clinical risk factors of chronic lymphocytic leukaemia transformation to Richter syndrome , 2008, British journal of haematology.

[6]  Eric S. Lander,et al.  Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing , 2012, Proceedings of the National Academy of Sciences.

[7]  Jan Delabie,et al.  Transformation of follicular lymphoma to diffuse large B‐cell lymphoma proceeds by distinct oncogenic mechanisms , 2007, British journal of haematology.

[8]  G. Hannon,et al.  p15INK4B is a potential effector of TGF-beta-induced cell cycle arrest. , 1994, Nature.

[9]  K. Do,et al.  Clinical outcomes and prognostic factors in patients with Richter's syndrome treated with chemotherapy or chemoimmunotherapy with or without stem-cell transplantation. , 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[10]  Thijs J. Hagenbeek,et al.  Therapeutic antibody targeting of individual Notch receptors , 2010, Nature.

[11]  Gregory J. Hannon,et al.  pl5INK4B is a potentia| effector of TGF-β-induced cell cycle arrest , 1994, Nature.

[12]  C. Roberts,et al.  ARID1A mutations in cancer: another epigenetic tumor suppressor? , 2013, Cancer discovery.

[13]  J. Gribben,et al.  Transformation of follicular lymphoma to diffuse large B-cell lymphoma may occur by divergent evolution from a common progenitor cell or by direct evolution from the follicular lymphoma clone. , 2009, Blood.

[14]  Stefano Monti,et al.  Integrative analysis reveals an outcome-associated and targetable pattern of p53 and cell cycle deregulation in diffuse large B cell lymphoma. , 2012, Cancer cell.

[15]  A. Ferrando,et al.  Preclinical Analysis of the γ-Secretase Inhibitor PF-03084014 in Combination with Glucocorticoids in T-cell Acute Lymphoblastic Leukemia , 2012, Molecular Cancer Therapeutics.

[16]  David Dunson,et al.  Genetic heterogeneity of diffuse large B-cell lymphoma , 2013, Proceedings of the National Academy of Sciences.

[17]  S. Malek,et al.  Chronic Lymphocytic Leukemia , 2019, Methods in Molecular Biology.

[18]  Carlos Caldas,et al.  The implications of clonal genome evolution for cancer medicine. , 2013, The New England journal of medicine.

[19]  Brad T. Sherman,et al.  Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists , 2008, Nucleic acids research.

[20]  Michael Hallek,et al.  Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia: a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer Institute-Working Group 1996 guidelines. , 2008, Blood.

[21]  A. Sivachenko,et al.  SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. , 2011, The New England journal of medicine.

[22]  P. L. Bergsagel,et al.  Degree of focal immunoglobulin heavy chain locus deletion as a measure of B-cell tumor purity , 2013, Leukemia.

[23]  A. McKenna,et al.  Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia , 2012, Cell.

[24]  H. Döhner,et al.  TP53 mutation and survival in chronic lymphocytic leukemia. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[25]  D. Schadendorf,et al.  Highly Recurrent TERT Promoter Mutations in Human Melanoma , 2022 .

[26]  P. Ouillette,et al.  Clonal Evolution, Genomic Drivers, and Effects of Therapy in Chronic Lymphocytic Leukemia , 2013, Clinical Cancer Research.

[27]  T. Honjo,et al.  Regulation of marginal zone B cell development by MINT, a suppressor of Notch/RBP-J signaling pathway. , 2003, Immunity.

[28]  P. Laird,et al.  Pim-1 levels determine the size of early B lymphoid compartments in bone marrow , 1993, The Journal of experimental medicine.

[29]  L. Pasqualucci,et al.  Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness. , 2011, Blood.

[30]  Jenny Taylor,et al.  Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns. , 2012, Blood.

[31]  E. Lander,et al.  Assessing the significance of chromosomal aberrations in cancer: Methodology and application to glioma , 2007, Proceedings of the National Academy of Sciences.

[32]  Andrew P. Weng,et al.  Activating Mutations of NOTCH1 in Human T Cell Acute Lymphoblastic Leukemia , 2004, Science.

[33]  Barry Fine,et al.  Activation of the PI3K Pathway in Cancer Through Inhibition of PTEN by Exchange Factor P-REX2a , 2009, Science.

[34]  Brad T. Sherman,et al.  Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources , 2008, Nature Protocols.

[35]  L. Larocca,et al.  Molecular history of Richter syndrome: origin from a cell already present at the time of chronic lymphocytic leukemia diagnosis , 2011, International journal of cancer.

[36]  Juliane C. Dohm,et al.  Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia , 2011, Nature.

[37]  T. Stankovic,et al.  Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia , 1999, The Lancet.

[38]  L. Pasqualucci,et al.  Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia. , 2011, Blood.

[39]  E. Giné,et al.  Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia , 2011, Nature Genetics.

[40]  P. Baumann,et al.  Pot1, the Putative Telomere End-Binding Protein in Fission Yeast and Humans , 2001, Science.

[41]  Yutaka Miura,et al.  Frequent somatic mutations of the transcription factor ATBF1 in human prostate cancer , 2005, Nature Genetics.

[42]  L. Pasqualucci,et al.  Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation , 2011, The Journal of experimental medicine.

[43]  Adam A. Margolin,et al.  NOTCH1 directly regulates c-MYC and activates a feed-forward-loop transcriptional network promoting leukemic cell growth , 2006, Proceedings of the National Academy of Sciences.

[44]  L. Ding,et al.  Aggressive Chronic Lymphocytic Leukemia with Elevated Genomic Complexity Is Associated with Multiple Gene Defects in the Response to DNA Double-Strand Breaks , 2010, Clinical Cancer Research.

[45]  T. Kipps,et al.  Phase I-II study of oxaliplatin, fludarabine, cytarabine, and rituximab combination therapy in patients with Richter's syndrome or fludarabine-refractory chronic lymphocytic leukemia. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[46]  D. Rawlings,et al.  Integration of B cell responses through Toll-like receptors and antigen receptors , 2012, Nature Reviews Immunology.

[47]  F. Alt,et al.  Increased T-cell apoptosis and terminal B-cell differentiation induced by inactivation of the Ets-1 proto-oncogene , 1995, Nature.

[48]  C. Lacroix,et al.  The Ubiquitin-Specific Protease USP34 Regulates Axin Stability and Wnt/β-Catenin Signaling , 2011, Molecular and Cellular Biology.

[49]  David T. W. Jones,et al.  Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations , 2012, Cell.

[50]  P. Nash,et al.  Regulation of Epidermal Growth Factor Receptor Ubiquitination and Trafficking by the USP8·STAM Complex* , 2010, The Journal of Biological Chemistry.

[51]  D. Rossi,et al.  Richter syndrome: molecular insights and clinical perspectives , 2009, Hematological oncology.

[52]  B. E. C. Oiffier,et al.  CHOP Chemotherapy plus Rituximab Compared with CHOP Alone in Elderly Patients with Diffuse Large-B-Cell Lymphoma , 2002 .

[53]  T. Fennell,et al.  Melanoma genome sequencing reveals frequent PREX2 mutations , 2012, Nature.

[54]  S. Lowe,et al.  A microRNA polycistron as a potential human oncogene , 2005, Nature.

[55]  L. Bruhn,et al.  Promiscuous mutations activate the noncanonical NF-kappaB pathway in multiple myeloma. , 2007, Cancer cell.

[56]  Raul Rabadan,et al.  Analysis of the Coding Genome of Diffuse Large B-Cell Lymphoma , 2011, Nature Genetics.

[57]  Pablo Tamayo,et al.  Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[58]  L. Staudt,et al.  Frequent engagement of the classical and alternative NF-kappaB pathways by diverse genetic abnormalities in multiple myeloma. , 2007, Cancer cell.

[59]  Medical Faculty,et al.  High-Resolution Genomic Profiling of Chronic Lymphocytic Leukemia Reveals New Recurrent Genomic Alterations , 2014 .

[60]  Pierre Morel,et al.  CHOP chemotherapy plus rituximab compared with CHOP alone in elderly patients with diffuse large-B-cell lymphoma. , 2002, The New England journal of medicine.

[61]  C. Sherr,et al.  Principles of Tumor Suppression , 2004, Cell.

[62]  S. Pileri,et al.  The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development , 2012, The Journal of experimental medicine.

[63]  M. Daly,et al.  PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes , 2003, Nature Genetics.

[64]  Dietmar Rieder,et al.  A novel RB E3 Ubiquitin Ligase (NRBE3) promotes cancer cell proliferation through a regulation loop with RB/E2F1 , 2013 .

[65]  David L. Vaux,et al.  Bcl-2 gene promotes haemopoietic cell survival and cooperates with c-myc to immortalize pre-B cells , 1988, Nature.

[66]  G. Hannon,et al.  A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4 , 1993, Nature.

[67]  Benjamin J. Raphael,et al.  The Mutational Landscape of Lethal Castrate Resistant Prostate Cancer , 2012, Nature.

[68]  Yue Xiong,et al.  ARF Promotes MDM2 Degradation and Stabilizes p53: ARF-INK4a Locus Deletion Impairs Both the Rb and p53 Tumor Suppression Pathways , 1998, Cell.

[69]  S. Aizawa,et al.  Notch2 is preferentially expressed in mature B cells and indispensable for marginal zone B lineage development. , 2003, Immunity.

[70]  S. Pileri,et al.  BRAF mutations in hairy-cell leukemia. , 2011, The New England journal of medicine.

[71]  Alfonso Valencia,et al.  Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia , 2012, Nature Genetics.

[72]  F. Bertoni,et al.  B‐Cell Chronic Lymphocytic Leukaemia , 2011 .

[73]  Hongsheng Wang,et al.  IRF8 regulates myeloid and B lymphoid lineage diversification , 2009, Immunologic research.

[74]  S. Pileri,et al.  The genetics of Richter syndrome reveals disease heterogeneity and predicts survival after transformation. , 2011, Blood.

[75]  Jing Wang,et al.  Lymphoproliferative disease and autoimmunity in mice with increased miR-17-92 expression in lymphocytes , 2008, Nature Immunology.

[76]  Riccardo Dalla-Favera,et al.  Mechanisms of chromosomal translocations in B cell lymphomas , 2001, Oncogene.

[77]  A. López-Guillermo,et al.  POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia , 2013, Nature Genetics.

[78]  Bjoern Sander,et al.  Molecular Architecture of the Multiprotein Splicing Factor SF3b , 2003, Science.

[79]  L. Staudt,et al.  Confirmation of the molecular classification of diffuse large B-cell lymphoma by immunohistochemistry using a tissue microarray. , 2004, Blood.

[80]  D. Longo,et al.  MYC rearrangements in histologically progressed follicular lymphomas. , 1992, Blood.

[81]  Richard Durbin,et al.  Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..

[82]  Steven J. M. Jones,et al.  Frequent mutation of histone modifying genes in non-Hodgkin lymphoma , 2011, Nature.