Abstract：The clearance of cancer cells is closely associated with the prognosis of various hematologic malignancies. Clinical studies have shown that minimal residual disease (MRD) can directly reflect the clearance of cancer cells, but the tools for MRD detection need to be improved. This article reviews the latest advances in the MRD detection by digital polymerase chain reaction and next-generation sequencing in B-cell lymphoproliferative disease.
Gribben JG, Freedman AS, Neuberg D, et al. Immunologic purging of marrow assessed by PCR before autologous bone marrow transplantation for B-cell lymphoma[J]. N Engl J Med, 1991, 325(22):1525-1533.
[2]
van Dongen JJ, Langerak AW, Brüggemann M, 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[J]. Leukemia, 2003, 17(12):2257-2317.
[3]
González D, González M, Balanzategui A, et al. Molecular characteristics and gene segment usage in IGH gene rearrangements in multiple myeloma[J]. Haematologica, 2005, 90(7):906-913.
[4]
Ferrero S, Drandi D, Mantoan B, et al. Minimal residual disease detection in lymphoma and multiple myeloma:impact on therapeutic paradigms[J]. Hematol Oncol, 2011, 29(4):167-176.
[5]
Scherer F, Kurtz DM, Diehn M, et al. High-throughput sequencing for noninvasive disease detection in hematologic malignancies[J]. Blood, 2017, 130(4):440-452.
[6]
Tiacci E, Penson A, Schiavoni G, et al. New recurrently mutated genes in classical hodgkin lymphoma revealed by whole-exome sequencing of microdissected tumor cells[J]. Blood, 2016, 128(22):1088.
[7]
Rossi D, Diop F, Spaccarotella E, et al. Diffuse large B-cell lymphoma genotyping on the liquid biopsy[J]. Blood, 2017, 129(14):1947-1957.
[8]
van der Velden VH, Cazzaniga G, Schrauder A, et al. Analysis of minimal residual disease by Ig/TCR gene rearrangements:guidelines for interpretation of real-time quantitative PCR data[J]. Leukemia, 2007, 21(4):604-611.
[9]
Kotrova M, van der Velden VHJ, van Dongen JJM, et al. Next-generation sequencing indicates false-positive MRD results and better predicts prognosis after SCT in patients with childhood ALL[J]. Bone Marrow Transplant, 2017, 52(7):962-968.
[10]
Nixon G, Garson JA, Grant P, et al. Comparative study of sensitivity, linearity, and resistance to inhibition of digital and nondigital polymerase chain reaction and loop mediated isothermal amplification assays for quantification of human cytomegalovirus[J]. Anal Chem, 2014, 86(9):4387-4394.
[11]
Dingle TC, Sedlak RH, Cook L, et al. Tolerance of droplet-digital PCR vs real-time quantitative PCR to inhibitory substances[J]. Clin Chem, 2013, 59(11):1670-1672.
[12]
Cavalli M, De Novi LA, Della Starza I, et al. Comparative analysis between RQ-PCR and digital droplet PCR of BCL2/IGH gene rearrangement in the peripheral blood and bone marrow of early stage follicular lymphoma[J]. Br J Haematol, 2017, 177(4):588-596.
[13]
Guerrini F, Paolicchi M, Ghio F, et al. The droplet digital PCR:a new valid molecular approach for the assessment of B-RAF V600E mutation in hairy cell leukemia[J]. Front Pharmacol, 2016, 7:363.
[14]
Albitar A, Ma W, Dedios I, et al. Positive selection and high sensitivity test for MYD88 mutations using locked nucleic acid[J]. Int J Lab Hematol, 2016, 38(2):133-140.
[15]
Wang WJ, Zheng CF, Liu Z, et al. Droplet digital PCR for BCR/ABL ABL(P210) detection of chronic myeloid leukemia:a high sensitive method of the minimal residual disease and disease progression[J]. Eur J Haematol, 2018, 101(3):291-296.
[16]
Della Starza I, Nunes V, Cavalli M, et al. Comparative analysis between Rq-PCR and digital-droplet-PCR of immunoglobulin/T-cell receptor gene rearrangements to monitor minimal residual disease in acute lymphoblastic leukaemia[J]. Br J Haematol, 2016, 174(4):541-549.
[17]
Faham M, Zheng J, Moorhead M, et al. Deep-sequencing approach for minimal residual disease detection in acute lymphoblastic leukemia[J]. Blood, 2012, 120(26):5173-5180.
[18]
Ladetto M, Brüggemann M, Monitillo L, et al. Next-generation sequencing and real-time quantitative PCR for minimal residual disease detection in B-cell disorders[J]. Leukemia, 2014, 28(6):1299-1307.
[19]
Langerak AW, Brüggemann M, Davi F, et al. High-throughput immunogenetics for clinical and research applications in immunohematology:potential and challenges[J]. J Immunol, 2017, 198(10):3765-3774.
[20]
Bystry V, Reigl T, Krejci A, et al. ARResT/interrogate:an interactive immunoprofiler for IG/TR NGS data[J]. Bioinformatics, 2017, 33(3):435-437.
[21]
Kotrova M, Muzikova K, Mejstrikova E, et al. The predictive strength of next-generation sequencing MRD detection for relapse compared with current methods in childhood ALL[J]. Blood, 2015, 126(8):1045-1047.
[22]
Aouinti S, Giudicelli V, Duroux P, et al. IMGT/statclonotype for pairwise evaluation and visualization of NGS IG and TR IMGT clonotype (AA) diversity or expression from IMGT/HighV-QUEST[J]. Front Immunol, 2016, 7:339.
[23]
Beccuti M, Genuardi E, Romano G, et al. Hashclone:a new tool to quantify the minimal residual disease in B-cell lymphoma from deep sequencing data[J]. BMC Bioinformatics, 2017, 18(1):516.
[24]
Bystry V, Agathangelidis A, Bikos V, et al. ARResT/AssignSubsets:a novel application for robust subclassification of chronic lymphocytic leukemia based on B cell receptor IG stereotypy[J]. Bioinformatics, 2015, 31(23):3844-3846.
[25]
Martinez-Lopez J, Lahuerta JJ, Pepin F, et al. Prognostic value of deep sequencing method for minimal residual disease detection in multiple myeloma[J]. Blood, 2014, 123(20):3073-3079.
[26]
Finzel A, Sadik H, Ghitti G, et al. The combined analysis of solid and liquid biopsies provides additional clinical information to improve patient care[J]. J Cancer Metastasis Treat, 2018, 4(5):21.
[27]
Zeng H, He B, Yi C, et al. Liquid biopsies:DNA methylation analyses in circulating cell-free DNA[J]. J Genet Genomics, 2018, 45(4):185-192.
[28]
Scherer F, Kurtz DM, Newman AM, et al. Distinct biological subtypes and patterns of genome evolution in lymphoma revealed by circulating tumor DNA[J]. Sci Transl Med, 2016, 8(364):364ra155.
[29]
Camus V, Sarafan-Vasseur N, Bohers E, et al. Digital PCR for quantification of recurrent and potentially actionable somatic mutations in circulating free DNA from patients with diffuse large B-cell lymphoma[J]. Leuk Lymphoma, 2016, 57(9):2171-2179.
[30]
Camus V, Stamatoullas A, Mareschal S, et al. Detection and prognostic value of recurrent exportin 1 mutations in tumor and cell-free circulating DNA of patients with classical Hodgkin lymphoma[J]. Haematologica, 2016, 101(9):1094-1101.
[31]
Kurtz DM, Jin M, Soo J. Circulating tumor DNA is a reliable measure of tumor burden at diagnosis of diffuse large B cell lymphoma:an international reproducibility study[J]. Blood, 2017, 130(Suppl 1):31.
