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Hallek M. Chronic Lymphocytic Leukemia: 2020 Update on Diagnosis, Risk Stratification and Treatment. Am J Hematol (2019) 94(11):1266–87. 10.1002/ajh.25595
PubMed
DOI
Kipps TJ, Stevenson FK, Wu CJ, Croce CM, Packham G, Wierda WG, et al. . Chronic Lymphocytic Leukaemia. Nat Rev Dis Primers (2017) 3:1–12. 10.1038/nrdp.2016.96
PubMed
DOI
PMC
Baliakas P, Jeromin S, Iskas M, Puiggros A, Plevova K, Nguyen-Khac F, et al. . Cytogenetic Complexity in Chronic Lymphocytic Leukemia: Definitions, Associations, and Clinical Impact. Blood (2019) 133(11):1205–16. 10.1182/blood-2018-09-873083
PubMed
DOI
PMC
Landau DA, Tausch E, Taylor-Weiner AN, Stewart C, Reiter JG, Bahlo J, et al. . Mutations Driving CLL and Their Evolution in Progression and Relapse. Nature (2015) 526(7574):525–30. 10.1038/nature15395
PubMed
DOI
PMC
Dohner H, Stilgenbauer S, Benner A, Leupolt E, Kröber A, Bullinger L, et al. . Genomic Aberrations and Survival in Chronic Lymphocytic Leukemia. New Engl J Med (2000) 343(26):1910–6. 10.1056/NEJM200012283432602
PubMed
DOI
Klein U, Lia M, Crespo M, Siegel R, Shen Q, Mo T, et al. . The DLEU2/miR-15a/16-1 Cluster Controls B Cell Proliferation and Its Deletion Leads to Chronic Lymphocytic Leukemia. Cancer Cell (2010) 17(1):28–40. 10.1016/j.ccr.2009.11.019
PubMed
DOI
Dohner H, Stilgenbauer S, James MR, Benner A, Weilguni T, Bentz M, et al. . 11q Deletions Identify a New Subset of B-Cell Chronic Lymphocytic Leukemia Characterized by Extensive Nodal Involvement and Inferior Prognosis. Blood (1997) 89(7):2516–22. 10.1182/blood.V89.7.2516
PubMed
DOI
Guarini A, Marinelli M, Tavolaro S, Bellacchio E, Magliozzi M, Chiaretti S, et al. . ATM Gene Alterations in Chronic Lymphocytic Leukemia Patients Induce a Distinct Gene Expression Profile and Predict Disease Progression. Haematologica (2012) 97(1):47–55. 10.3324/haematol.2011.049270
PubMed
DOI
PMC
Marinelli M, Peragine N, Di Maio V, Chiaretti S, Stefania De Propris M, Raponi S, et al. . Identification of Molecular and Functional Patterns of P53 Alterations in Chronic Lymphocytic Leukemia Patients in Different Phases of the Disease. Haematologica (2013) 98(3):371–5. 10.3324/haematol.2012.069906
PubMed
DOI
PMC
Abruzzo LV, Herling CD, Calin GA, Oakes C, Barron LL, Banks HE, et al. . Trisomy 12 Chronic Lymphocytic Leukemia Expresses a Unique Set of Activated and Targetable Pathways. Haematologica (2018) 103(12):2069–78. 10.3324/haematol.2018.190132
PubMed
DOI
PMC
Roos-Weil D, Nguyen-Khac F, Chevret S, Touzeau C, Roux C, Lejeune J, et al. . Mutational and Cytogenetic Analyses of 188 CLL Patients With Trisomy 12: A Retrospective Study From the French Innovative Leukemia Organization (FILO) Working Group. Genes Chromosomes Cancer (2018) 57(11):533–40. 10.1002/gcc.22650
PubMed
DOI
Puente XS, Bea S, Valdes-Mas R, Villamor N, Gutiérrez-Abril J, Martín-Subero JI, et al. . Non-Coding Recurrent Mutations in Chronic Lymphocytic Leukaemia. Nature (2015) 526(7574):519–24. 10.1038/nature14666
PubMed
DOI
Ljungstrom V, Cortese D, Young E, Pandzic R, Mansouri L, Plevova K, et al. . Whole-Exome Sequencing in Relapsing Chronic Lymphocytic Leukemia: Clinical Impact of Recurrent RPS15 Mutations. Blood (2016) 127(8):1007–16. 10.1182/blood-2015-10-674572
PubMed
DOI
PMC
Wang L, Lawrence MS, Wan Y, Stojanov P, Sougnez C, Stevenson K, et al. . SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia. N Engl J Med (2011) 365(26):2497–506. 10.1056/NEJMoa1109016
PubMed
DOI
PMC
Quesada V, Conde L, Villamor N, Ordóñez GR, Jares P, Bassaganyas L, et al. . Exome Sequencing Identifies Recurrent Mutations of the Splicing Factor SF3B1 Gene in Chronic Lymphocytic Leukemia. Nat Genet (2011) 44(1):47–52. 10.1038/ng.1032
PubMed
DOI
Rosenquist R, Ghia P, Hadzidimitriou A, Sutton L-A, Agathangelidis A, Baliakas P, et al. . Immunoglobulin Gene Sequence Analysis in Chronic Lymphocytic Leukemia: Updated ERIC Recommendations. Leukemia (2017) 31(7):1477–81. 10.1038/leu.2017.125
PubMed
DOI
PMC
Agathangelidis A, Chatzidimitriou A, Gemenetzi K, Giudicelli V, Karypidou M, Plevova K, et al. . Higher-Order Connections Between Stereotyped Subsets: Implications for Improved Patient Classification in CLL. Blood (2021) 137(10):1365–76. 10.1182/blood.2020007039
PubMed
DOI
PMC
Jaramillo S, Agathangelidis A, Schneider C, Bahlo J, Robrecht S, Tausch E, et al. . Prognostic Impact of Prevalent Chronic Lymphocytic Leukemia Stereotyped Subsets: Analysis Within Prospective Clinical Trials of the German CLL Study Group (GCLLSG). Haematologica (2020) 105(11):2598–607. 10.3324/haematol.2019.231027
PubMed
DOI
PMC
Baliakas P, Agathangelidis A, Hadzidimitriou A, Sutton L-A, Minga E, Tsanousa A, et al. . Not All IGHV3-21 Chronic Lymphocytic Leukemias Are Equal: Prognostic Considerations. Blood (2015) 125(5):856–9. 10.1182/blood-2014-09-600874
PubMed
DOI
PMC
Maity PC, Bilal M, Koning MT, Young M, van Bergen CAM, Renna V, et al. . IGLV3-21*01 is an Inherited Risk Factor for CLL Through the Acquisition of a Single-Point Mutation Enabling Autonomous BCR Signaling. Proc Natl Acad Sci U S A (2020) 117(8):4320–7. 10.1073/pnas.1913810117
PubMed
DOI
PMC
Nadeu F, Royo R, Clot G, Duran-Ferrer M, Navarro A, Martín S, et al. . IGLV3-21R110 Identifies an Aggressive Biological Subtype of Chronic Lymphocytic Leukemia With Intermediate Epigenetics. Blood (2021) 137(21):2935–46. 10.1182/blood.2020008311
PubMed
DOI
PMC
Cerhan JR, Slager SL. Familial Predisposition and Genetic Risk Factors for Lymphoma. Blood (2015) 126(20):2265–73. 10.1182/blood-2015-04-537498
PubMed
DOI
PMC
Goldin LR, Landgren O, Marti GE, Caporaso NE. Familial Aspects of Chronic Lymphocytic Leukemia, Monoclonal B-Cell Lymphocytosis (MBL), and Related Lymphomas. Eur J Clin Med Oncol (2010) 2(1):119–26.
PubMed
PMC
Goldin LR, Bjorkholm M, Kristinsson SY, Turesson I, Landgren O. Elevated Risk of Chronic Lymphocytic Leukemia and Other Indolent non-Hodgkin’s Lymphomas Among Relatives of Patients With Chronic Lymphocytic Leukemia. Haematologica (2009) 94(5):647–53. 10.3324/haematol.2008.003632
PubMed
DOI
PMC
Goldin LR, Lanasa MC, Slager SL, Cerhan JR, Vachon CM, Strom SS, et al. . Common Occurrence of Monoclonal B-Cell Lymphocytosis Among Members of High-Risk CLL Families. Br J Haematol (2010) 151(2):152–8. 10.1111/j.1365-2141.2010.08339.x
PubMed
DOI
PMC
Di Bernardo MC, Crowther-Swanepoel D, Broderick P, Webb E, Sellick G, Wild R, et al. . A Genome-Wide Association Study Identifies Six Susceptibility Loci for Chronic Lymphocytic Leukemia. Nat Genet (2008) 40(10):1204–10. 10.1038/ng.219
PubMed
DOI
Sellick GS, Goldin LR, Wild RW, Slager SL, Ressenti L, Strom SS, et al. . A High-Density SNP Genome-Wide Linkage Search of 206 Families Identifies Susceptibility Loci for Chronic Lymphocytic Leukemia. Blood (2007) 110(9):3326–33. 10.1182/blood-2007-05-091561
PubMed
DOI
PMC
Slager SL, Goldin LR, Strom SS, Lanasa MC, Spector LG, Rassenti L, et al. . Genetic Susceptibility Variants for Chronic Lymphocytic Leukemia. Cancer Epidemiol Biomarkers Prev (2010) 19(4):1098–102. 10.1158/1055-9965.EPI-09-1217
PubMed
DOI
PMC
Berndt SI, Skibola CF, Joseph V, Camp NJ, Nieters A, Wang Z, et al. . Genome-Wide Association Study Identifies Multiple Risk Loci for Chronic Lymphocytic Leukemia. Nat Genet (2013) 45(8):868–76. 10.1038/ng.2652
PubMed
DOI
PMC
Crowther-Swanepoel D, Broderick P, Di Bernardo MC, Dobbins SE, Torres M, Mansouri M, et al. . Common Variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 Influence Chronic Lymphocytic Leukemia Risk. Nat Genet (2010) 42(2):132–U159. 10.1038/ng.510
PubMed
DOI
PMC
Sava GP, Speedy HE, Di Bernardo MC, Dyer MJS, Holroyd A, Sunter NJ, et al. . Common Variation at 12q24.13 (OAS3) Influences Chronic Lymphocytic Leukemia Risk. Leukemia (2015) 29(3):748–51. 10.1038/leu.2014.311
PubMed
DOI
PMC
Slager SL, Rabe KG, Achenbach SJ, Vachon CM, Goldin LR, Strom SS, et al. . Genome-Wide Association Study Identifies a Novel Susceptibility Locus at 6p21.3 Among Familial CLL. Blood (2011) 117(6):1911–6. 10.1182/blood-2010-09-308205
PubMed
DOI
PMC
Speedy HE, Di Bernardo MC, Sava GP, Dyer MJS, Holroyd A, Wang Y, et al. . A Genome-Wide Association Study Identifies Multiple Susceptibility Loci for Chronic Lymphocytic Leukemia. Nat Genet (2014) 46(1):56–+. 10.1038/ng.2843
PubMed
DOI
Langerak AW, Davi F, Ghia P, Hadzidimitriou A, Murray F, Potter KN, et al. . Immunoglobulin Sequence Analysis and Prognostication in CLL: Guidelines From the ERIC Review Board for Reliable Interpretation of Problematic Cases. Leukemia (2011) 25(6):979–84. 10.1038/leu.2011.49
PubMed
DOI
van Dongen JJ, Langerak AW, Bruggemann M, Evans PAS, Hummel M, Lavender FL, 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. Leukemia (2003) 17(12):2257–317. 10.1038/sj.leu.2403202
PubMed
DOI
Bystry V, Reigl T, Krejci A, Demko M, Hanakova B, Grioni A, et al. . ARResT/Interrogate: An Interactive Immunoprofiler for IG/TR NGS Data. Bioinformatics (2017) 33(3):435–7. 10.1093/bioinformatics/btw634
PubMed
DOI
van der Velden VHJ, Bruggemann M, Cazzaniga G, Scheijen B, Tops B, Trka J, et al. . Potential and Pitfalls of Whole Transcriptome-Based Immunogenetic Marker Identification in Acute Lymphoblastic Leukemia; a EuroMRD and EuroClonality-NGS Working Group Study. Leukemia (2021) 35(3):924–8. 10.1038/s41375-021-01154-z
PubMed
DOI
PMC
Mayakonda A, Lin DC, Assenov Y, Plass C, Koeffler HP. Maftools: Efficient and Comprehensive Analysis of Somatic Variants in Cancer. Genome Res (2018) 28(11):1747–56. 10.1101/gr.239244.118
PubMed
DOI
PMC
Tate JG, Bamford S, Jubb HC, Sondka Z, Beare DM, Bindal N, et al. . COSMIC: The Catalogue Of Somatic Mutations In Cancer. Nucleic Acids Res (2019) 47(D1):D941–7. 10.1093/nar/gky1015
PubMed
DOI
PMC
Fernhout F, Dinkelaar RB, Hagemeijer A, Groeneveld K, van Kammen E, van Dongen JJ. Four Aged Siblings With B Cell Chronic Lymphocytic Leukemia. Leukemia (1997) 11(12):2060–5. 10.1038/sj.leu.2400874
PubMed
DOI
Kriangkum J, Motz SN, Mack T, Beiggi S, Baigorri E, Kuppusamy H, et al. . Single-Cell Analysis and Next-Generation Immuno-Sequencing Show That Multiple Clones Persist in Patients With Chronic Lymphocytic Leukemia. PloS One (2015) 10(9):e0137232. 10.1371/journal.pone.0137232
PubMed
DOI
PMC
Hengeveld PJ, Levin MD, Kolijn PM, Langerak AW. Reading the B-Cell Receptor Immunome in Chronic Lymphocytic Leukemia: Revelations and Applications. Exp Hematol (2021) 93:14–24. 10.1016/j.exphem.2020.09.194
PubMed
DOI
Raponi S, Ilari C, Della Starza I, Cappelli LV, Cafforio L, Piciocchi A, et al. . Redefining the Prognostic Likelihood of Chronic Lymphocytic Leukaemia Patients With Borderline Percentage of Immunoglobulin Variable Heavy Chain Region Mutations. Br J Haematol (2020) 189(5):853–9. 10.1111/bjh.16434
PubMed
DOI
Gemenetzi K, Psomopoulos F, Carriles AA, Gounari M, Minici C, Plevova K, et al. . Higher-Order Immunoglobulin Repertoire Restrictions in CLL: The Illustrative Case of Stereotyped Subsets 2 and 169. Blood (2021) 137(14):1895–904. 10.1182/blood.2020005216
PubMed
DOI
Marincevic M, Cahill N, Gunnarsson R, Isaksson A, Mansouri M, Göransson H, et al. . High-Density Screening Reveals a Different Spectrum of Genomic Aberrations in Chronic Lymphocytic Leukemia Patients With ‘Stereotyped’ IGHV3-21 and IGHV4-34 B-Cell Receptors. Haematologica (2010) 95(9):1519–25. 10.3324/haematol.2009.021014
PubMed
DOI
PMC
Fraschilla I, Jeffrey KL. The Speckled Protein (SP) Family: Immunity’s Chromatin Readers. Trends Immunol (2020) 41(7):572–85. 10.1016/j.it.2020.04.007
PubMed
DOI
PMC
Leeksma AC, Baliakas P, Moysiadis T, Puiggros A, Plevova K, Van der Kevie-Kersemaekers A-M, et al. . Genomic Arrays Identify High-Risk Chronic Lymphocytic Leukemia With Genomic Complexity: A Multi-Center Study. Haematologica (2021) 106(1):87–97. 10.3324/haematol.2019.239947
PubMed
DOI
PMC
Rack KA, van den Berg E, Haferlach C, Beverloo HB, Costa D, Espinet B, et al. . European Recommendations and Quality Assurance for Cytogenomic Analysis of Haematological Neoplasms: Reponse to the Comments From the Francophone Group of Hematological Cytogenetics (GFCH). Leukemia (2020) 34(8):2262–4. 10.1038/s41375-020-0736-x
PubMed
DOI
PMC
Schoumans J, Suela J, Hastings R, Muehlematter D, Rack K, van den Berg E, et al. . Guidelines for Genomic Array Analysis in Acquired Haematological Neoplastic Disorders. Genes Chromosomes Cancer (2016) 55(5):480–91. 10.1002/gcc.22350
PubMed
DOI
Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, et al. . Identification of Deleterious Germline CHEK2 Mutations and Their Association With Breast and Ovarian Cancer. Int J Cancer (2019) 145(7):1782–97. 10.1002/ijc.32385
PubMed
DOI
Rudd MF, Sellick GS, Webb EL, Catovsky D, Houlston RS. Variants in the ATM-BRCA2-CHEK2 Axis Predispose to Chronic Lymphocytic Leukemia. Blood (2006) 108(2):638–44. 10.1182/blood-2005-12-5022
PubMed
DOI
Waddell N, Pajic M, Patch AM, Chang DK, Kassahn KS, Bailey P, et al. . Whole Genomes Redefine the Mutational Landscape of Pancreatic Cancer. Nature (2015) 518(7540):495–501. 10.1038/nature14169
PubMed
DOI
PMC
Yang X, Fu YJ, Hu FQ, Luo XL, Hu JB, Wang GH. PIK3R3 Regulates PPAR Alpha Expression to Stimulate Fatty Acid Beta-Oxidation and Decrease Hepatosteatosis. Exp Mol Med (2018) 50:e431–e431. 10.1038/emm.2017.243
PubMed
DOI
PMC
Moore NS, Aldubayan SH, Taylor-Weiner A, Stilgenbauer S, Getz G, Wu CJ, et al. . Inherited DNA Repair and Cell Cycle Gene Defects in Chronic Lymphocytic Leukemia. J Clin Oncol (2019) 37(15):1508–1508. 10.1200/JCO.2019.37.15_suppl.1508
DOI
Derenzini E, Mazzara S, Melle F, Motta G, Fabbri M, Bruna R, et al. . A 3-Gene Signature Based on MYC, BCL-2 and NFKBIA Improves Risk Stratification in Diffuse Large B-Cell Lymphoma. Haematologica (2020). 10.3324/haematol.2019.236455
PubMed
DOI
PMC
Wu B, Slabicki M, Sellner L, Dietrich S, Liu X, Jethwa A, et al. . MED12 Mutations and NOTCH Signalling in Chronic Lymphocytic Leukaemia. Br J Haematol (2017) 179(3):421–9. 10.1111/bjh.14869
PubMed
DOI
Improgo MR, Tesar B, Klitgaard JL, Magori-Cohen R, Yu L, Kasar S, et al. . MYD88 L265P Mutations Identify a Prognostic Gene Expression Signature and a Pathway for Targeted Inhibition in CLL. Br J Haematol (2019) 184(6):925–36. 10.1111/bjh.15714
PubMed
DOI
Herling CD, Klaumunzer M, Rocha CK, Altmüller J, Thiele H, Bahlo J, et al. . Complex Karyotypes and KRAS and POT1 Mutations Impact Outcome in CLL After Chlorambucil-Based Chemotherapy or Chemoimmunotherapy. Blood (2016) 128(3):395–404. 10.1182/blood-2016-01-691550
PubMed
DOI
Vendramini E, Bomben R, Pozzo F, Benedetti D, Bittolo T, Rossi FM, et al. . KRAS, NRAS, and BRAF Mutations Are Highly Enriched in Trisomy 12 Chronic Lymphocytic Leukemia and Are Associated With Shorter Treatment-Free Survival. Leukemia (2019) 33(8):2111–5. 10.1038/s41375-019-0444-6
PubMed
DOI
PMC
Hoofd C, Huang SJ, Gusscott S, Lam S, Wong R, Johnston A, et al. . Ultrasensitive Detection of NOTCH1 C.7544_7545delct Mutations in Chronic Lymphocytic Leukemia by Droplet Digital PCR Reveals High Frequency of Subclonal Mutations and Predicts Clinical Outcome in Cases With Trisomy 12. J Mol Diagn (2020) 22(4):571–8. 10.1016/j.jmoldx.2020.01.008
PubMed
DOI
Kasar S, Kim J, Improgo R, Tiao G, Polak P, Haradhvala N, et al. . Whole-Genome Sequencing Reveals Activation-Induced Cytidine Deaminase Signatures During Indolent Chronic Lymphocytic Leukaemia Evolution. Nat Commun (2015) 6:1–12. 10.1038/ncomms9866
PubMed
DOI
PMC
Klein U, Dalla-Favera R. New Insights Into the Pathogenesis of Chronic Lymphocytic Leukemia. Semin Cancer Biol (2010) 20(6):377–83. 10.1016/j.semcancer.2010.10.012
PubMed
DOI
Ghia EM, Jain S, Widhopf GF, Rassenti LZ, Keating MJ, Wierda WG, et al. . Use of IGHV3-21 in Chronic Lymphocytic Leukemia Is Associated With High-Risk Disease and Reflects Antigen-Driven, Post-Germinal Center Leukemogenic Selection. Blood (2008) 111(10):5101–8. 10.1182/blood-2007-12-130229
PubMed
DOI
PMC
Ecker V, Stumpf M, Brandmeier L, Neumayer T, Pfeuffer L, Engleitner T, et al. . Targeted PI3K/AKT-Hyperactivation Induces Cell Death in Chronic Lymphocytic Leukemia. Nat Commun (2021) 12(1):3526. 10.1038/s41467-021-23752-2
PubMed
DOI
PMC
Goldin LR, Slager SL. Familial CLL: Genes and Environment. Hematol Am Soc Hematol Educ Program (2007) 1:339–45. 10.1182/asheducation-2007.1.339
PubMed
DOI