1,400
Views
0
CrossRef citations to date
0
Altmetric
Reviews

The inherited genetic contribution and polygenic risk score for risk of CLL and MBL: a narrative review

&
Pages 788-798 | Received 04 Nov 2022, Accepted 06 Dec 2022, Published online: 28 Dec 2022

References

  • Hallek M, Cheson BD, Catovsky D, et al. iwCLL guidelines for diagnosis, indications for treatment, response assessment, and supportive management of CLL. Blood. 2018;131(25):2745–2760.
  • Landgren O, Albitar M, Ma W, et al. B-cell clones as early markers for chronic lymphocytic leukemia. N Engl J Med. 2009;360(7):659–667.
  • Slager SL, Lanasa MC, Marti GE, et al. Natural history of monoclonal B-cell lymphocytosis among relatives in CLL families. Blood. 2021;137(15):2046–2056.
  • Kolijn PM, Hosnijeh FS, Spath F, et al. High-risk subtypes of chronic lymphocytic leukemia are detectable as early as 16 years prior to diagnosis. Blood. 2022;139(10):1557–1563.
  • Marti GE, Rawstron AC, Ghia P, et al. Diagnostic criteria for monoclonal B-cell lymphocytosis. Br J Haematol. 2005;130(3):325–332.
  • Shanafelt TD, Ghia P, Lanasa MC, et al. Monoclonal B-cell lymphocytosis (MBL): biology, natural history and clinical management. Leukemia. 2010;24(3):512–520.
  • Rawstron AC, Shanafelt T, Lanasa MC, et al. Different biology and clinical outcome according to the absolute numbers of clonal B-cells in monoclonal B-cell lymphocytosis (MBL). Cytometry B Clin Cytom. 2010;78(1):S19–S23.
  • Dagklis A, Fazi C, Sala C, et al. The immunoglobulin gene repertoire of low-count chronic lymphocytic leukemia (CLL)-like monoclonal B lymphocytosis is different from CLL: diagnostic implications for clinical monitoring. Blood. 2009;114(1):26–32.
  • Slager SL, Parikh SA, Achenbach SJ, et al. Prevalence and overall survival of low count monoclonal B-Cell lymphocytosis (LC-MBL): a screening study of 8,297 individuals from the Mayo clinic biobank. Blood. 2021;138(1):2632–2632.
  • Fazi C, Scarfo L, Pecciarini L, et al. General population low-count CLL-like MBL persists over time without clinical progression, although carrying the same cytogenetic abnormalities of CLL. Blood. 2011;118(25):6618–6625.
  • Goldin LR, Bjorkholm M, Kristinsson SY, et al. 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):647–653.
  • Slager SL, Benavente Y, Blair A, et al. Medical history, lifestyle, family history, and occupational risk factors for chronic lymphocytic leukemia/small lymphocytic lymphoma: the interlymph non-Hodgkin lymphoma subtypes project. J Natl Cancer Inst Monogr. 2014;2014(48):41–51.
  • Sud A, Chattopadhyay S, Thomsen H, et al. Analysis of 153 115 patients with hematological malignancies refines the spectrum of familial risk. Blood. 2019;134(12):960–969.
  • Casabonne D, Almeida J, Nieto WG, et al. Common infectious agents and monoclonal B-cell lymphocytosis: a cross-sectional epidemiological study among healthy adults. PLOS One. 2012;7(12):e52808.
  • Kleinstern G, Weinberg JB, Parikh SA, et al. Polygenic risk score and risk of monoclonal B-cell lymphocytosis in Caucasians and risk of chronic lymphocytic leukemia (CLL) in African Americans. Leukemia. 2022;36(1):119–125.
  • Marti GE, Carter P, Abbasi F, et al. B-cell monoclonal lymphocytosis and B-cell abnormalities in the setting of familial B-cell chronic lymphocytic leukemia. Cytometry B Clin Cytom. 2003;52(1):1–12.
  • Rawstron AC, Yuille MR, Fuller J, et al. Inherited predisposition to CLL is detectable as subclinical monoclonal B-lymphocyte expansion. Blood. 2002;100(7):2289–2290.
  • Rawstron AC, Green MJ, Kuzmicki A, et al. Monoclonal B lymphocytes with the characteristics of "indolent" chronic lymphocytic leukemia are present in 3.5% of adults with normal blood counts. Blood. 2002;100(2):635–639.
  • Ghia P, Prato G, Scielzo C, et al. Monoclonal CD5+ and CD5- B-lymphocyte expansions are frequent in the peripheral blood of the elderly. Blood. 2004;103(6):2337–2342.
  • Mucci LA, Hjelmborg JB, Harris JR, et al. Familial risk and heritability of cancer among twins in nordic countries. JAMA. 2016;315(1):68–76.
  • Law PJ, Berndt SI, Speedy HE, et al. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. Nat Commun. 2017;8:14175.
  • Di Bernardo MC, Crowther-Swanepoel D, Broderick P, et al. A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia. Nat Genet. 2008;40(10):1204–1210.
  • Crowther-Swanepoel D, Broderick P, Di Bernardo MC, et al. Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk. Nat Genet. 2010;42(2):132–136.
  • Slager SL, Rabe KG, Achenbach SJ, et al. Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL. Blood. 2011;117(6):1911–1916.
  • Slager SL, Skibola CF, Di Bernardo MC, et al. Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. Blood. 2012;120(4):843–846.
  • Crowther-Swanepoel D, Di Bernardo MC, Jamroziak K, et al. Common genetic variation at 15q25.2 impacts on chronic lymphocytic leukaemia risk. Br J Haematol. 2011;154(2):229–233.
  • Berndt SI, Skibola CF, Joseph V, et al. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Nat Genet. 2013;45(8):868–876.
  • Speedy HE, Di Bernardo MC, Sava GP, et al. A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Nat Genet. 2014;46(1):56–60.
  • Berndt SI, Camp NJ, Skibola CF, et al. Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. Nat Commun. 2016;7:10933.
  • Kandaswamy R, Sava GP, Speedy HE, et al. Genetic predisposition to chronic lymphocytic leukemia is mediated by a BMF super-enhancer polymorphism. Cell Rep. 2016;16(8):2061–2067.
  • Speedy HE, Beekman R, Chapaprieta V, et al. Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics. Nat Commun. 2019;10(1):3615.
  • Yan H, Tian S, Kleinstern G, et al. Chronic lymphocytic leukemia (CLL) risk is mediated by multiple enhancer variants within CLL risk loci. Hum Mol Genet. 2020;29(16):2761–2774.
  • Lan Q, Au WY, Chanock S, et al. Genetic susceptibility for chronic lymphocytic leukemia among Chinese in Hong Kong. Eur J Haematol. 2010;85(6):492–495.
  • Coombs CC, Rassenti LZ, Falchi L, et al. Single nucleotide polymorphisms and inherited risk of chronic lymphocytic leukemia among African Americans. Blood. 2012;120(8):1687–1690.
  • Rawstron AC, Bennett FL, O’Connor SJ, et al. Monoclonal B-cell lymphocytosis and chronic lymphocytic leukemia. N Engl J Med. 2008;359(6):575–583.
  • Parikh SA, Chaffee KG, Larson MC, et al. Outcomes of a large cohort of individuals with clinically ascertained high-count monoclonal B-cell lymphocytosis. Haematologica. 2018;103(6):e237–e240.
  • Crowther-Swanepoel D, Corre T, Lloyd A, et al. Inherited genetic susceptibility to monoclonal B-cell lymphocytosis. Blood. 2010;116(26):5957–5960.
  • Kleinstern G, Camp NJ, Goldin LR, et al. Association of polygenic risk score with the risk of chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis. Blood. 2018;131(23):2541–2551.
  • Torkamani A, Wineinger NE, Topol EJ. The personal and clinical utility of polygenic risk scores. Nat Rev Genet. 2018;19(9):581–590.
  • Chatterjee N, Shi J, García-Closas M. Developing and evaluating polygenic risk prediction models for stratified disease prevention. Nat Rev Genet. 2016;17(7):392–406.
  • Zhang YD, Hurson AN, Zhang H, et al. Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers. Nat Commun. 2020;11(1):3353.
  • Berndt SI, Vijai J, Benavente Y, et al. Distinct germline genetic susceptibility profiles identified for common non-Hodgkin lymphoma subtypes. Leukemia. 2022;36(12):2835–2844.
  • Muchtar E, Kay NE, Parikh SA. Early intervention in asymptomatic chronic lymphocytic leukemia. Clin Adv Hematol Oncol. 2021;19(2):92–103.
  • Trevino KM, Martin P, Chen Z, et al. Worsening quality of life in indolent non-Hodgkin lymphoma and chronic lymphocytic leukemia patients in active surveillance: a 12-month longitudinal study. Clin Lymphoma Myeloma Leuk. 2022;22(2):82–88.