Unraveling the genetics of transformed splenic marginal zone lymphoma

Key Points • SMZL transformation is associated with genomic complexity and distinct genomic alterations (TNFAIP3, CDKN2A/B, TP53, and 6p+).• KLF2 mutations and complex karyotypes in transformed SMZL confer a shorter survival.

[1]  D. Torrents,et al.  Detection of early seeding of Richter transformation in chronic lymphocytic leukemia , 2022, Nature Medicine.

[2]  A. Rosenwald,et al.  The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms , 2022, Leukemia.

[3]  L. Staudt,et al.  The International Consensus Classification of Mature Lymphoid Neoplasms: A Report from the Clinical Advisory Committee. , 2022, Blood.

[4]  T. Habermann,et al.  Marginal zone lymphoma: present status and future perspectives , 2022, Haematologica.

[5]  E. Giné,et al.  Clinico‐biological features and outcome of patients with splenic marginal zone lymphoma with histological transformation , 2021, British journal of haematology.

[6]  G. Morgan,et al.  Copy number signatures predict chromothripsis and clinical outcomes in newly diagnosed multiple myeloma , 2021, Nature Communications.

[7]  S. Beà,et al.  Balanced and unbalanced translocations in a multicentric series of 2843 patients with chronic lymphocytic leukemia , 2021, Genes, chromosomes & cancer.

[8]  A. López-Guillermo,et al.  Genetic and Phenotypic Attributes of Splenic Marginal Zone Lymphoma. , 2021, Blood.

[9]  D. Oscier,et al.  The (epi)genomic landscape of splenic marginal zone lymphoma, biological implications, clinical utility, and future questions , 2021 .

[10]  R. Shekhar,et al.  Frequency of MYD88 L256P mutation and its correlation with clinico-hematological profile in mature B-cell neoplasm. , 2020, Hematology/oncology and stem cell therapy.

[11]  E. Giné,et al.  Mutational Landscape and Tumor Burden Assessed by Cell-free DNA in Diffuse Large B-Cell Lymphoma in a Population-Based Study , 2020, Clinical Cancer Research.

[12]  K. Shaw,et al.  Evolving insights into the genomic complexity and immune landscape of diffuse large B-cell lymphoma: opportunities for novel biomarkers , 2020, Modern Pathology.

[13]  E. Giné,et al.  Genomic and epigenomic insights into the origin, pathogenesis and clinical behavior of mantle cell lymphoma subtypes. , 2020, Blood.

[14]  Ryan D. Morin,et al.  A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications. , 2020, Cancer cell.

[15]  S. Barrans,et al.  Targeted sequencing in DLBCL, molecular subtypes, and outcomes: a Haematological Malignancy Research Network report. , 2020, Blood.

[16]  D. Oscier,et al.  Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma , 2019, Scientific Reports.

[17]  Juan F. García,et al.  Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma , 2019, PloS one.

[18]  I. Lossos,et al.  Risk Factors for Transformation to Higher-Grade Lymphoma and Its Impact on Survival in a Large Cohort of Patients With Marginal Zone Lymphoma From a Single Institution. , 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[19]  Stefano Monti,et al.  Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes , 2018, Nature Medicine.

[20]  Roland Schmitz,et al.  Genetics and Pathogenesis of Diffuse Large B‐Cell Lymphoma , 2018, The New England journal of medicine.

[21]  Michael R. Green,et al.  Chromatin modifying gene mutations in follicular lymphoma. , 2018, Blood.

[22]  D. Dunson,et al.  Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma , 2017, Cell.

[23]  Juan F. García,et al.  Clinical and diagnostic relevance of NOTCH2-and KLF2-mutations in splenic marginal zone lymphoma , 2017, Haematologica.

[24]  D. Rossi,et al.  Molecular pathogenesis of splenic and nodal marginal zone lymphoma. , 2017, Best practice & research. Clinical haematology.

[25]  Eric Talevich,et al.  CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing , 2016, PLoS Comput. Biol..

[26]  A. López-Guillermo,et al.  Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia. , 2015, Blood.

[27]  F. Cavalli,et al.  Histologic transformation in marginal zone lymphomas†. , 2015, Annals of oncology : official journal of the European Society for Medical Oncology.

[28]  S. Bens,et al.  NOTCH1, TP53, and MAP2K1 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma Are Associated With Progressive Disease , 2015, The American journal of surgical pathology.

[29]  L. Armengol,et al.  Detection of chromothripsis‐like patterns with a custom array platform for chronic lymphocytic leukemia , 2015, Genes, chromosomes & cancer.

[30]  A. Valencia,et al.  Non-coding recurrent mutations in chronic lymphocytic leukaemia , 2015, Nature.

[31]  R. Gascoyne,et al.  Outcomes in splenic marginal zone lymphoma: analysis of 107 patients treated in British Columbia , 2015, British journal of haematology.

[32]  K. Stamatopoulos,et al.  Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing , 2015, Clinical Cancer Research.

[33]  D. Rossi.  Role of MYD88 in lymphoplasmacytic lymphoma diagnosis and pathogenesis. , 2014, Hematology. American Society of Hematology. Education Program.

[34]  J. Martinez-Climent,et al.  KLF2 mutation is the most frequent somatic change in splenic marginal zone lymphoma and identifies a subset with distinct genotype , 2014, Leukemia.

[35]  S. Pileri,et al.  The Krüppel-like factor 2 transcription factor gene is recurrently mutated in splenic marginal zone lymphoma , 2014, Leukemia.

[36]  W. Klapper,et al.  Genomic and epigenomic co-evolution in follicular lymphomas , 2014, Leukemia.

[37]  A. Salar,et al.  Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation , 2014, Leukemia.

[38]  Raul Rabadan,et al.  Genetics of follicular lymphoma transformation. , 2014, Cell reports.

[39]  M. Calaminici,et al.  Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma , 2013, Nature Genetics.

[40]  Raul Rabadan,et al.  Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome , 2013, The Journal of experimental medicine.

[41]  Ahmet Dogan,et al.  An Integrated Genomic and Expression Analysis of 7q Deletion in Splenic Marginal Zone Lymphoma , 2012, PloS one.

[42]  J. Martinez-Climent,et al.  High‐throughput sequencing analysis of the chromosome 7q32 deletion reveals IRF5 as a potential tumour suppressor in splenic marginal‐zone lymphoma , 2012, British journal of haematology.

[43]  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.

[44]  G. Getz,et al.  GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers , 2011, Genome Biology.

[45]  R. Gascoyne,et al.  Acquired TNFRSF14 mutations in follicular lymphoma are associated with worse prognosis. , 2010, Cancer research.

[46]  A. Salar,et al.  Cytogenetic aberrations and their prognostic value in a series of 330 splenic marginal zone B-cell lymphomas: a multicenter study of the Splenic B-Cell Lymphoma Group. , 2010, Blood.

[47]  Xavier Estivill,et al.  Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling. , 2009, Blood.

[48]  A. Salar,et al.  Splenic marginal zone lymphoma proposals for a revision of diagnostic, staging and therapeutic criteria , 2008, Leukemia.

[49]  L. Staudt,et al.  Diffuse large B-cell lymphoma subgroups have distinct genetic profiles that influence tumor biology and improve gene-expression-based survival prediction. , 2005, Blood.

[50]  M Hummel,et al.  Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: Report of the BIOMED-2 Concerted Action BMH4-CT98-3936 , 2003, Leukemia.

[51]  E. Campo,et al.  p16(INK4a) gene inactivation by deletions, mutations, and hypermethylation is associated with transformed and aggressive variants of non-Hodgkin's lymphomas. , 1998, Blood.

[52]  P. Isaacson,et al.  Splenic marginal zone lymphoma. , 1997, Seminars in diagnostic pathology.

[53]  R. Gascoyne,et al.  Genome-wide DNA profiling of marginal zone lymphomas identifies subtype-specific lesions with an impact on the clinical outcome , 2011 .