Advances in diagnosis and evaluation of lymphoma through the detection of circulating cell free DNA

doi:10.16352/j.issn.1001-6325.2022.04.017

Abstract

Abstract: Circulating cell-free DNA(cf DNA) detection in peripheral blood is becoming increasingly convenient and inexpensive with the development of genetic testing technology. It provides a new option for diagnosis, prognosis prediction, post-treatment evaluation and disease surveillance of lymphoma patients. Especially in targeted therapy, lymphoma typing and diagnosis tend to be based on genetic characteristics, and the advantages of cf DNA detection from peripheral blood sample increasingly prominent.

Key words: circulating cell-free DNA, lymphoma, diagnosis, evaluation

CLC Number:

R446.9

BAI Xiao-teng, SUN Xiao-hong, ZHAO Xiang-yu, LI Zi-jian. Advances in diagnosis and evaluation of lymphoma through the detection of circulating cell free DNA[J]. Basic & Clinical Medicine, 2022, 42(4): 661-666.

References

[1] Younes A, Sehn LH, Johnson P, et al. Randomized phase III trial of ibrutinib and rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone in non-germinal center B-cell diffuse large B-cell lymphoma[J]. J Clin Oncol, 2019, 37: 1285-1295.
[2] Nowakowski GS, Chiappella A, Witzig TE, et al. ROBUST: Lenalidomide-R-CHOP versus placebo-R-CHOP in previously untreated ABC-type diffuse large B-cell lymphoma[J]. Future Oncol, 2016, 12: 1553-1563.
[3] Snyder MW, Kircher M, Hill AJ, et al. Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin[J]. Cell, 2016, 164: 57-68.
[4] Mathai RA, Vidya RVS, Reddy BS, et al. Potential utility of liquid biopsy as a diagnostic and prognostic tool for the assessment of solid tumors: implications in the precision oncology[J]. J Clin Med, 2019, 8:373. doi: 10.3390/jcm8030373.
[5] 钟凌, 贾永前, 孟文彤, 等. 非霍奇金淋巴瘤患者血浆游离DNA IgH和TCRγ基因重排的检测及临床意义[J]. 中华血液学杂志,2008,29: 258-262.
[6] 陈园园, 郭素青, 李英华, 等. 血循环DNA在淋巴瘤中的定量检测及其临床意义[J]. 中国实验血液学杂志, 2016, 24: 1390-1396.
[7] Jianqiu W, Weiyan T, Laiquan H, et al. The analysis of cell-free DNA concentrations and integrity in serum of initial and treated of lymphoma patients[J]. Clin biochem, 2019, 63:59-65.
[8] Tao K, Wang X, Tian X. Relapsed primary central nervous system lymphoma: current advances[J]. Front Oncol, 2021, 11: 649789. doi: 10.3389/fonc.2021.649789.
[9] Rimelen V, Ahle G, Pencreach E, et al. Tumor cell-free DNA detection in CSF for primary CNS lymphoma diagnosis[J]. Acta Neuropathol Commun, 2019, 7: 43. doi: 10.1186/s40478-019-0692-8.
[10] Hickmann AK, Frick M, Hadaschik D, et al. Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas[J]. BMC Cancer, 2019, 19: 192. doi: 10.1186/s12885-019-5394-x.
[11] Liu H, Yang C, Zhao X, et al. Genotyping on ctDNA identifies shifts in mutation spectrum between newly diagnosed and relapse/refractory DLBCL[J]. Onco Targets Ther, 2020, 13: 10797-10806.
[12] Kurtz DM, Green MR, Bratman SV, et al. Noninvasive monitoring of diffuse large B-cell lymphoma by immunoglobulin high-throughput sequencing[J]. Blood, 2015, 125: 3679-3687.
[13] Roschewski M, Dunleavy K, Pittaluga S, et al. Circulat-ing tumour DNA and CT monitoring in patients with untreated diffuse large B-cell lymphoma: a correlative biomarker study[J]. Lancet Oncol, 2015, 16: 541-549.
[14] 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, 9.doi:10.1126/scitranslmed.aai8545.
[15] Rivas-Delgado A, Nadeu F, Enjuanes A, et al. Muta-tional landscape and tumor burden assessed by cell-free DNA in diffuse large B-cell lymphoma in a population-based study[J]. Clin Cancer Res, 2021, 27: 513-521.
[16] Zhou L, Zhao H, Shao Y, et al. Serial surveillance by circulating tumor DNA profiling after chimeric antigen receptor t therapy for the guidance of r/r diffuse large B cell lymphoma precise treatment[J]. J Cancer, 2021, 12: 5423-5431.
[17] Chase ML,Armand P. Minimal residual disease in non-hodgkin lymphoma-current applications and future directions[J]. Br J Haematol, 2018, 180: 177-188.
[18] Mauz-Korholz C, Metzger ML, Kelly KM, et al. Pediatric Hodgkin lymphoma[J]. J Clin Oncol, 2015, 33: 2975-2985.
[19] Bessi L, Viailly PJ, Bohers E, et al. Somatic mutations of cell-free circulating DNA detected by targeted next-generation sequencing and digital droplet PCR in classical hodgkin lymphoma[J]. Leuk Lymphoma, 2019, 60: 498-502.
[20] Desch AK, Hartung K, Botzen A, et al. Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma[J]. Leukemia, 2020, 34: 151-166.
[21] Shi Y, Su H, Song Y, et al. Circulating tumor DNA predicts response in chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab[J]. EBioMedicine, 2020, 54: 102731. doi: 10.1016/j.ebiom.2020.102731.
[22] Delfau-Larue MH, van der Gucht A, Dupuis J, et al. Total metabolic tumor volume, circulating tumor cells, cell-free DNA: distinct prognostic value in follicular lymphoma[J]. Blood Adv, 2018, 2: 807-816.
[23] Camus V,Jardin F. Cell-free DNA and the monitoring of lymphoma treatment[J]. Pharmacogenomics, 2019, 20: 1271-1282.
[24] Zhong Y, Xu F, Wu J, et al. Application of next generation sequencing in laboratory medicine[J]. Ann Lab Med, 2021, 41: 25-43.
[25] Noguchi T, Sakai K, Iwahashi N, et al. Changes in the gene mutation profiles of circulating tumor DNA detected using CAPP-seq in neoadjuvant chemotherapy-treated advanced ovarian cancer[J]. Oncol Lett, 2020, 19: 2713-2720.
[26] Rossi D, Diop F, Spaccarotella E, et al. Diffuse large B-cell lymphoma genotyping on the liquid biopsy[J]. Blood, 2017, 129: 1947-1957.
[27] Vitale SR, Groenendijk FH, van Marion R, et al. TP53 mutations in serum circulating cell-free tumor DNA as longitudinal biomarker for high-grade serous ovarian cancer[J]. Biomolecules, 2020, 10: 415. doi: 10.3390/biom10030415.