An update on circulating tumor DNA in patients with Hodgkin lymphoma

Czech version

Authors: A. Kredátusová; Viktor Procházka; T. Papajík
Authors‘ workplace: Hemato-onkologická klinika LF UP a FN Olomouc
Published in: Transfuze Hematol. dnes,28, 2022, No. 3, p. 135-142.
Category: Review/Educational Papers
doi: https://doi.org/10.48095/cctahd2022prolekare.cz9

Overview

Circulating tumour DNA (ctDNA) is a type of extracellular circulating cell-free DNA (ccfDNA, cfDNA) released into the blood of cancer patients by apoptosis and necrosis of tumour cells. It represents an alternative biomarker for the qualitative and quantitative analysis that may together with PET/CT imaging refine the assessment of treatment response in patients with Hodgkin lymphoma. As a dynamic parameter, it could be applied for refining diagnosis, initial screening for mutations and patient risk stratification. During treatment and at its the end, it could be used to evaluate treatment efficacy and may also be useful for further monitoring and relapse prediction.

Keywords:

Hodgkin lymphoma – Circulating tumor DNA – liquid biopsy – minimal residual disease

Sources

1. Cancer Today. Global Cancer Observatory. International agency for research on cancer [online]. Dostupné na: https: //gco.iarc.fr/today/home [cit. 2022-03-17].

2. Hodgkinův lymfom. In: Belada D, Trněný M a kolektív autorů Kooperativní lymfomové skupiny. Diagnostické a léčebné postupy u nemocných s maligními lymfomy. 12. vyd; publikováno elektronicky 6. ledna 2022; 158–168. Dostupné na: https: //www.lymphoma.cz/_uploads/attachments/Lecebna_doporuceni_06-JAN-2022.pdf [cit. 2022-03-17].

3. Sýkorová A, Móciková H, Lukášová M, et al. Outcome of elderly patients with classical Hodgkin‘s lymphoma. Leuk Res. 2020; 90: 106311.

4. Spina V, Bruscaggin A, Cuccaro A, et al. Circulating tumor DNA reveals genetics, clonal evolution, and residual disease in classical Hodgkin lymphoma. Blood. 2018; 131 (22): 2413–2425.

5. Cheson BD, Ansell S, et al. Refinement of the Lugano classification lymphoma response criteria in the era of immunomodulatory therapy. Blood. 2016; 128 (21): 2489–2496.

6. Younes A, Hilden P, Coiffier B, et al. International Working Group consensus response evaluation criteria in lymphoma (RECIL 2017). Ann Oncol. 2017; 28 (7): 1436–1447.

7. Cirillo M, Borchmann S. An update on disease biomarkers for Hodgkin lymphoma. Expert Rev Hematol. 2020; 13 (5): 481–488.

8. Li M, Jia Y, Xu J, Cheng X, Xu C. Assessment of the circulating cell-free DNA marker association with diagnosis and prognostic prediction in patients with lymphoma: a single-center experience. Ann Hematol. 2017; 96 (8): 1343–1351.

9. Righolt CH, Knecht H, Mai S. DNA Superresolution structure of Reed-Sternberg cells differs between long-lasting remission versus relapsing Hodgkin‘s lymphoma patients. J Cell Biochem. 2016; 117 (7): 1633–1637.

10. Camus V, Jardin F. Cell-free DNA for the management of classical Hodgkin lymphoma. Pharmaceuticals (Basel). 2021; 14 (3): 207.

11. Buedts L, Wlodarska I, Finalet-Ferreiro J, et al. The landscape of copy number variations in classical Hodgkin lymphoma: a joint KU Leuven and LYSA study on cell-free DNA. Blood Adv. 2021; 5 (7): 1991–2002.

12. Hohaus S, Giachelia M, Massini G, et al. Cell-free circulating DNA in Hodgkin‘s and non-Hodgkin‘s lymphomas. Ann Oncol. 2009; 20 (8): 1408–1413.

13. Mandel P, Métais P. Les acides nucléiques du plasma sanguin chez l’Homme. C R Seances Soc Biol Fil. 1948; 142 (3–4): 241–243.

14. Vandenberghe P, Wlodarska I, Tousseyn T, et al. Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin‘s lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study. Lancet Haematol. 2015; 2 (2): 55–65.

15. Jiang M, Bennani NN, Feldman AL. Lymphoma classification update: T-cell lymphomas, Hodgkin lymphomas, and histiocytic/dendritic cell neoplasms. Expert Rev Hematol. 2017; 10 (3): 239–249.

16. Kűppers R, Engert A, Hansmann M-L. Hodgkin lymphoma. J Clin Invest. 2012; 122 (10): 3439–3447.

17. Desch A, Hartung K, Botzen A, et al. Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma. Leukemia. 2020; 34 (1): 151–166.

18. Pös Z, Pös O, Styk J, et al. Technical and methodological aspects of cell-free nucleic acids analyzes. Int J Mol Sci. 2020; 21 (22): 8634.

19. Liu J, Chen X, Wang J, et al. Biological background of the genomic variations of cf-DNA in healthy individuals. Ann Oncol. 2019; 30 (3): 464–470.

20. 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. Haematologica. 2016; 101 (9): 1094–101.

21. Camus V, Viennot M, Lequesne J, et al. Targeted genotyping of circulating tumor DNA for classical Hodgkin lymphoma monitoring: a prospective study. Haematologica. 2021; 106 (1): 154–162.

22. Roemer MGM, Redd RA, Cader FZ, et al. Major histocompatibilty complex class II and programmed death ligand 1 expression predict outcome after programmed death 1 blockade in classic Hodgkin lymphoma. J Clin Oncol. 2018; 36 (10): 942–950.

23. Roemer MGM, Advani RH, Ligon AH, et al. PD-L1 and PD-L2 Genetic alterations define classical Hodgkin lymphoma and predict outcome. J Clin Oncol. 2016; 34 (23): 2690–2697.

24. Di Trani M, Rizzo E, Locatelli S, et al. Longitudinal assessment of circulating tumor mutational burden using a next-generation sequencing cancer gene panel: a potential biomarker of response to programmed cell death 1 (PD-1) blockade in patients with relapsed/refractory classical Hodgkin lymphoma. Blood. 2019; 134 (Suppl 1): 131.

25. García-Olmo DC, Domínguez C, García-Arranz M, et al. Cell-free nucleic acids circulating in the plasma of colorectal cancer patients induce the oncogenic transformation of susceptible cultured cells. Cancer Res. 2010; 70 (2): 560–567.

26. Diehl V, Stein H, Hummel M, Zollinger R, Connors JM. Hodgkin‘s lymphoma: biology and treatment strategies for primary, refractory, and relapsed disease. Hematology Am Soc Hematol Educ Program 2003. 2003: 225–247.

27. Procházka V, Gawande RS, Cayci Z, et al. Positron emission tomography-based assessment of metabolic tumor volume predicts survival after autologous hematopoietic cell transplantation for Hodgkin lymphoma. Biol Blood Marrow Transplant. 2018; 24 (1): 64–70.

28. Prochazka V, Henzlova L, Lukasova M, et al. Metabolic tumor volume and soluble cytokines levels in newly diagnosed Hodgkin lymphoma: What it brings into the staging precision? Blood. 2018; 132 (Suppl 1): 2933.

29. Akhtari M, Milgrom SA, Pinnix CC, et al. Reclassifying patients with early-stage Hodgkin lymphoma based on fuctional radiographic markers at presentation. Blood. 2018; 131 (1): 84–94.

30. Di Trani M, Ricci F, Sollini M, et al. Circulating tumor DNA integrated with interim [18F]FDG PET is highly effective in predicting outcome of relapsed/refractory classical Hodgkin lymphoma treated with the Begev regimen. Blood. 2021; 138 (Suppl 1): 3504.

31. Yuwono NL, Warton K, Ford CE. The influence of biological and lifestyle factors on circulating cell-free DNA in blood plasma. Elife; publikováno eletronicky 9. listopadu 2021. doi: 10.7554/eLife.69679.

32. Marková J. Hodgkinův lymfom – nekončící příběh. Transfuze Hematol Dnes. 2019; 25 (1): 87–95.