Whole-Exome and Whole-Genome Sequencing in Chronic Lymphocytic Leukemia: New Biomarkers to Target

References

• Siegel RL , MillerKD , JemalA. Cancer statistics, 2018. CA Cancer J. Clin.68(1), 7–30 (2018).
   PubMed Web of Science ®Google Scholar
• Smith A , HowellD , PatmoreR , JackA , RomanE. Incidence of haematological malignancy by sub-type: a report from the Haematological Malignancy Research Network. Br. J. Cancer105(11), 1684–1692 (2011).
   PubMed Web of Science ®Google Scholar
• Rai KR , JainP. Chronic lymphocytic leukemia (CLL) – then and now: chronic lymphocytic leukemia. Am. J. Hematol.91(3), 330–340 (2016).
   PubMed Web of Science ®Google Scholar
• Rai K , SawitskyA , CronkiteE , ChananaA , LevyR , PasternackB. Clinical staging of chronic lymphocytic leukemia. Blood46(2), 219 (1975).
   PubMed Web of Science ®Google Scholar
• Binet JL , AuquierA , DighieroGet al. A new prognostic classification of chronic lymphocytic leukemia derived from a multivariate survival analysis. Cancer48, 198 (1981).
   PubMed Web of Science ®Google Scholar
• Damle RN , WasilT , FaisFet al. Ig V gene mutation status and CD38 expression as novel prognostic indicators in chronic lymphocytic leukemia: presented in part at the 40th Annual Meeting of The American Society of Hematology, held in Miami Beach, FL, December 4–8, 1998. Blood J. Am. Soc. Hematol.94(6), 1840–1847 (1999).
   Google Scholar
• Hamblin TJ , DavisZ , GardinerA , OscierDG , StevensonFK. Unmutated Ig VH genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood J. Am. Soc. Hematol.94(6), 1848–1854 (1999).
   Google Scholar
• Crespo M , BoschF , VillamorNet al. ZAP-70 expression as a surrogate for immunoglobulin-variable-region mutations in chronic lymphocytic leukemia. N. Engl. J. Med.348(18), 1764–1775 (2003).
   PubMed Web of Science ®Google Scholar
• Ibrahim S , JilaniI , O’BrienSet al. Clinical relevance of the expression of the CD31 ligand for CD38 in patients with B-cell chronic lymphocytic leukemia. Cancer97(8), 1914–1919 (2003).
   PubMed Web of Science ®Google Scholar
• Molica S , AlbertiA. Prognostic value of the lymphocyte doubling time in chronic lymphocytic leukemia. Cancer60, 2712–2716 (1987).
   PubMed Web of Science ®Google Scholar
• di Giovanni S , ValentiniG , CarducciPet al. Beta-2-microglobulin is a reliable tumor marker in chronic lymphocytic leukemia. Acta Haematol.81, 181–185 (1989).
   PubMed Web of Science ®Google Scholar
• Döhner H , StilgenbauerS , BennerAet al. Genomic aberrations and survival in chronic lymphocytic leukemia. N. Engl. J. Med.343(26), 1910–1916 (2000).
   PubMed Web of Science ®Google Scholar
• Zenz T , EichhorstB , BuschRet al. TP53 mutation and survival in chronic lymphocytic leukemia. J. Clin. Oncol.28(29), 4473–4479 (2010).
   PubMed Web of Science ®Google Scholar
• Austen B , SkowronskaA , BakerCet al. Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion. J. Clin. Oncol.25(34), 5448–5457 (2007).
   PubMed Web of Science ®Google Scholar
• Rossi D , FangazioM , RasiSet al. Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia. Blood119(12), 2854–2862 (2012).
   PubMed Web of Science ®Google Scholar
• Oscier DG , Rose-ZerilliMJJ , WinkelmannNet al. The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial. Blood121(3), 468 (2013).
   PubMed Web of Science ®Google Scholar
• Fabbri G , RasiS , RossiDet al. Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. J. Exp. Med.208(7), 1389–1401 (2011).
   PubMed Web of Science ®Google Scholar
• Puente XS , PinyolM , QuesadaVet al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature475(7354), 101–105 (2011).
   PubMed Web of Science ®Google Scholar
• Wang L , LawrenceMS , WanYet al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N. Engl. J. Med.365(26), 2497–2506 (2011).
   PubMed Web of Science ®Google Scholar
• Quesada V , CondeL , VillamorNet al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat. Genet.44(1), 47–52 (2012).
   Web of Science ®Google Scholar
• Landau DA , TauschE , Taylor-WeinerANet al. Mutations driving CLL and their evolution in progression and relapse. Nature526(7574), 525–530 (2015).
   PubMed Web of Science ®Google Scholar
• Landau DA , CarterSL , StojanovPet al. Evolution and impact of subclonal mutations in chronic lymphocytic leukemia. Cell152(4), 714–726 (2013).
   PubMed Web of Science ®Google Scholar
• Puente XS , BeàS , Valdés-MasRet al. Non-coding recurrent mutations in chronic lymphocytic leukaemia. Nature526(7574), 519–524 (2015).
   PubMed Web of Science ®Google Scholar
• Ljungstrom V , CorteseD , YoungEet al. Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations. Blood127(8), 1007–1016 (2016).
   PubMed Web of Science ®Google Scholar
• Burns A , AlsolamiR , BecqJet al. Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups. Leukemia32(2), 332–342 (2018).
   PubMed Web of Science ®Google Scholar
• Dicker F , HerholzH , SchnittgerSet al. The detection of TP53 mutations in chronic lymphocytic leukemia independently predicts rapid disease progression and is highly correlated with a complex aberrant karyotype. Leukemia23, 117 (2008).
   PubMed Web of Science ®Google Scholar
• Austen B . Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL. Blood106(9), 3175–3182 (2005).
   PubMed Web of Science ®Google Scholar
• Hamblin TJ , DavisZ , GardinerA , OscierDG , StevensonFK. Unmutated IGVH genes are associated with a more aggressive form of chronic lymphocytic leukemia. Blood94(6), 1848 (1999).
   PubMed Web of Science ®Google Scholar
• Crombie J , DavidsMS. IGHV mutational status testing in chronic lymphocytic leukemia. Am. J. Hematol.92(12), 1393–1397 (2017).
   PubMed Web of Science ®Google Scholar
• Rossi D , RasiS , SpinaVet al. Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia. Blood121(8), 1403–1412 (2013).
   PubMed Web of Science ®Google Scholar
• Group IC-IW . An international prognostic index for patients with chronic lymphocytic leukaemia (CLL-IPI): a meta-analysis of individual patient data. Lancet Oncol.17(6), 779–790 (2016).
   PubMed Web of Science ®Google Scholar
• Minervini CF , CumboC , OrsiniPet al. TP53 gene mutation analysis in chronic lymphocytic leukemia by nanopore MinION sequencing. Diagn. Pathol.11(1), 96 (2016).
   PubMedGoogle Scholar
• Orsini P , MinerviniCF , CumboCet al. Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia. Sci. Rep.8(1), 1–10 (2018).
   PubMedGoogle Scholar
• Byrd JC , BrownJR , O’BrienSet al. Ibrutinib versus ofatumumab in previously treated chronic lymphoid leukemia. N. Engl. J. Med.71(3), 213–223 (2014).
   Google Scholar