The Predominant Prognostic Significance of NOTCH1 Mutation Defined by Emulsion PCR in Chronic Lymphocytic Leukemia

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. doi:10.1182/blood-2017-09-80639829540348
   PubMed Web of Science ®Google Scholar
• Sharma S, Rai KR. Chronic lymphocytic leukemia (CLL) treatment: so many choices, such great options. Cancer. 2019;125(9):1432–1440. doi:10.1002/cncr.3193130807655
   PubMed Web of Science ®Google Scholar
• Parikh SA. Chronic lymphocytic leukemia treatment algorithm 2018. Blood Cancer J. 2018;8(10):93. doi:10.1038/s41408-018-0131-230283014
   PubMed Web of Science ®Google Scholar
• Mosquera Orgueira A, Antelo Rodríguez B, Alonso Vence N, et al. Time to treatment prediction in chronic lymphocytic leukemia based on new transcriptional patterns. Front Oncol. 2019;9:79. doi:10.3389/fonc.2019.0007930828568
   PubMed Web of Science ®Google Scholar
• Puente XS, Pinyol M, Quesada V, et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature. 2011;475(7354):101–105. doi:10.1038/nature1011321642962
   PubMed Web of Science ®Google Scholar
• Quesada V, Conde L, Villamor N, et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet. 2012;44(1):47–52. doi:10.1038/ng.1032
   Web of Science ®Google Scholar
• Rossi D, Rasi S, Spina V, et al. Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia. Blood. 2013;121(8):1403–1412. doi:10.1182/blood-2012-09-45826523243274
   PubMed Web of Science ®Google Scholar
• Fabbri G, Rasi S, Rossi D, et al. Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. J Exp Med. 2011;208(7):1389–1401. doi:10.1084/jem.2011092121670202
   PubMed Web of Science ®Google Scholar
• Rosati E, Baldoni S, De Falco F, et al. NOTCH1 aberrations in chronic lymphocytic leukemia. Front Oncol. 2018;8:229. doi:10.3389/fonc.2018.0022929998084
   PubMed Web of Science ®Google Scholar
• Rossi D, Rasi S, Fabbri G, et al. Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia. Blood. 2012;119(2):521–529. doi:10.1182/blood-2011-09-37996622077063
   PubMed Web of Science ®Google Scholar
• Baliakas P, Hadzidimitriou A, Sutton L-A, et al. Recurrent mutations refine prognosis in chronic lymphocytic leukemia. Leukemia. 2015;29(2):329–336. doi:10.1038/leu.2014.19624943832
   PubMed Web of Science ®Google Scholar
• Sportoletti P, Baldoni S, Cavalli L, et al. NOTCH1 PEST domain mutation is an adverse prognostic factor in B-CLL. Br J Haematol. 2010;151(4):404–406. doi:10.1111/j.1365-2141.2010.08368.x20813007
   PubMed Web of Science ®Google Scholar
• Nadeu F, Delgado J, Royo C, et al. Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia. Blood. 2016;127(17):2122–2130. doi:10.1182/blood-2015-07-65914426837699
   PubMed Web of Science ®Google Scholar
• Jethwa A, Hüllein J, Stolz T, et al. Targeted resequencing for analysis of clonal composition of recurrent gene mutations in chronic lymphocytic leukaemia. Br J Haematol. 2013;163(4):496–500. doi:10.1111/bjh.1253924032483
   PubMed Web of Science ®Google Scholar
• Fabbri G, Khiabanian H, Holmes AB, et al. Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome. J Exp Med. 2013;210(11):2273–2288. doi:10.1084/jem.2013144824127483
   PubMed Web of Science ®Google Scholar
• Del Poeta G, Dal Bo M, Del Principe MI, et al. Clinical significance of c.7544–7545 delCT NOTCH1 mutation in chronic lymphocytic leukaemia. Br J Haematol. 2013;160(3):415–418. doi:10.1111/bjh.1212823167503
   PubMed Web of Science ®Google Scholar
• Rossi D, Rasi S, Spina V, et al. Different impact of NOTCH1 and SF3B1 mutations on the risk of chronic lymphocytic leukemia transformation to Richter syndrome. Br J Haematol. 2012;158(3):426–429. doi:10.1111/j.1365-2141.2012.09155.x22571487
   PubMed Web of Science ®Google Scholar
• Sportoletti P, Baldoni S, Del Papa B, et al. A revised NOTCH1 mutation frequency still impacts survival while the allele burden predicts early progression in chronic lymphocytic leukemia. Leukemia. 2014;28(2):436–439. doi:10.1038/leu.2013.28924177259
   PubMed Web of Science ®Google Scholar
• Fabbri G, Dalla-Favera R. The molecular pathogenesis of chronic lymphocytic leukaemia. Nat Rev Cancer. 2016;16(3):145–162. doi:10.1038/nrc.2016.826911189
   PubMed Web of Science ®Google Scholar
• Puente XS, Beà S, Valdés-Mas R, et al. Non-coding recurrent mutations in chronic lymphocytic leukaemia. Nature. 2015;526(7574):519–524. doi:10.1038/nature1466626200345
   PubMed Web of Science ®Google Scholar
• Villamor N, Conde L, Martínez-Trillos A, et al. NOTCH1 mutations identify a genetic subgroup of chronic lymphocytic leukemia patients with high risk of transformation and poor outcome. Leukemia. 2013;27(5):1100–1106. doi:10.1038/leu.2012.35723295735
   PubMed Web of Science ®Google Scholar
• Minervini A, Minervini CF, Anelli L, et al. Droplet digital PCR analysis of NOTCH1 gene mutations in chronic lymphocytic leukemia. Oncotarget. 2016;7(52):86469–86479. doi:10.18632/oncotarget.1324627835908
   PubMedGoogle Scholar
• Pinheiro LB, Coleman VA, Hindson CM, et al. Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification. Anal Chem. 2012;84(2):1003–1011. doi:10.1021/ac202578x22122760
   PubMed Web of Science ®Google Scholar
• Yuan D, Cui M, Yu S, Wang H, Jing R. Droplet digital PCR for quantification of PML-RARα in acute promyelocytic leukemia: a comprehensive comparison with real-time PCR. Anal Bioanal Chem. 2019;411(4):895–903. doi:10.1007/s00216-018-1508-630617397
   PubMed Web of Science ®Google Scholar
• Manoj P. Droplet digital PCR technology promises new applications and research areas. Mitochondrial DNA. 2016;27(1):742–746. doi:10.3109/19401736.2014.91316824779593
   PubMed Web of Science ®Google Scholar
• Putowski M, Podgórniak M, Piróg M, et al. Prognostic impact of NOTCH1, MYD88 and SF3B1 mutations in Polish population of chronic lymphocytic leukemia patients. Pol Arch Intern Med. 2017;127(4):238–244.28424451
   PubMedGoogle Scholar
• Hu B, Patel KP, Chen H-C, et al. Association of gene mutations with time‐to‐first treatment in 384 treatment‐naive chronic lymphocytic leukaemia patients. Br J Haematol. 2019;187(3):307–318. doi:10.1111/bjh.1604231243771
   PubMed Web of Science ®Google Scholar
• Landau DA, Carter SL, Stojanov P, et al. Evolution and impact of subclonal mutations in chronic lymphocytic leukemia. Cell. 2013;152(4):714–726. doi:10.1016/j.cell.2013.01.01923415222
   PubMed Web of Science ®Google Scholar
• Stilgenbauer S, Schnaiter A, Paschka P, et al. Gene mutations and treatment outcome in chronic lymphocytic leukemia: results from the CLL8 trial. Blood. 2014;123(21):3247–3254. doi:10.1182/blood-2014-01-54615024652989
   PubMed Web of Science ®Google Scholar
• Oscier DG, Rose-Zerilli MJJ, Winkelmann N, et al. The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial. Blood. 2013;121(3):468–475. doi:10.1182/blood-2012-05-42928223086750
   PubMed Web of Science ®Google Scholar
• Gentile M, Shanafelt TD, Cutrona G, et al. A progression-risk score to predict treatment-free survival for early stage chronic lymphocytic leukemia patients. Leukemia. 2016;30(6):1440–1443. doi:10.1038/leu.2015.33326648537
   PubMed Web of Science ®Google Scholar
• Molica S, Mauro FR, Callea V, et al. The utility of a prognostic index for predicting time to first treatment in early chronic lymphocytic leukemia: the GIMEMA experience. Haematologica. 2010;95(3):464–469. doi:10.3324/haematol.2009.01176719903673
   PubMed Web of Science ®Google Scholar
• Del Giudice I, Rossi D, Chiaretti S, et al. NOTCH1 mutations in +12 chronic lymphocytic leukemia (CLL) confer an unfavorable prognosis, induce a distinctive transcriptional profiling and refine the intermediate prognosis of +12 CLL. Haematologica. 2012;97(3):437–441. doi:10.3324/haematol.2011.06012922207691
   PubMed Web of Science ®Google Scholar
• Hoofd C, Huang SJ, Gusscott S, 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):571–578. doi:10.1016/j.jmoldx.2020.01.00832036086
   PubMed Web of Science ®Google Scholar
• Lionetti M, Fabris S, Cutrona G, et al. High-throughput sequencing for the identification of NOTCH1 mutations in early stage chronic lymphocytic leukaemia: biological and clinical implications. Br J Haematol. 2014;165(5):629–639. doi:10.1111/bjh.1280024579978
   PubMed Web of Science ®Google Scholar
• Raponi S, Del Giudice I, Marinelli M, et al. Genetic landscape of ultra-stable chronic lymphocytic leukemia patients. Ann Oncol. 2018;29(4):966–972. doi:10.1093/annonc/mdy02129365086
   PubMed Web of Science ®Google Scholar
• Amin NA, Seymour E, Saiya-Cork K, et al. Analysis of subclonal and clonal gene mutations before and after therapy in chronic lymphocytic leukemia. Clin Cancer Res. 2016;22(17):4525–4535. doi:10.1158/1078-0432.CCR-15-310327060156
   PubMed Web of Science ®Google Scholar
• D’Agaro T, Bittolo T, Bravin V, et al. NOTCH1 mutational status in chronic lymphocytic leukaemia: clinical relevance of subclonal mutations and mutation types. Br J Haematol. 2018;182(4):597–602. doi:10.1111/bjh.1484328699643
   PubMed Web of Science ®Google Scholar
• Condoluci A, Terzi Di Bergamo L, Langerbeins P, et al. International prognostic score for asymptomatic early-stage chronic lymphocytic leukemia. Blood. 2020;135(21):1859–1869. doi:10.1182/blood.201900345332267500
   PubMed Web of Science ®Google Scholar
• Moia R, Patriarca A, Schipani M, et al. Precision medicine management of chronic lymphocytic leukemia. Cancers (Basel). 2020;12(3):642. doi:10.3390/cancers12030642
   PubMed Web of Science ®Google Scholar