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Assessment of liquid biopsy in primary cutaneous diffuse large B-Cell lymphoma- leg type

  • Marie Guicheney
    Affiliations
    Dermatology Department, CHU Bordeaux, F:33000 Bordeaux, France
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  • Océane Ducharme
    Affiliations
    Dermatology Department, CHU Bordeaux, F:33000 Bordeaux, France

    Bordeaux Institute of Oncology, BRIC U1312, INSERM, Team 5 Translational Research on Oncodermatology and rare skin diseases, Univ. Bordeaux, 33000 Bordeaux, France
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  • Charline Caumont
    Affiliations
    Bordeaux Institute of Oncology, BRIC U1312, INSERM, Team 5 Translational Research on Oncodermatology and rare skin diseases, Univ. Bordeaux, 33000 Bordeaux, France

    Department of Tumor Biology, CHU Bordeaux, F:33604 Pessac, France
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  • Emilie Gerard
    Affiliations
    Dermatology Department, CHU Bordeaux, F:33000 Bordeaux, France
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  • Léa Dousset
    Affiliations
    Dermatology Department, CHU Bordeaux, F:33000 Bordeaux, France
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  • Marie Beylot-Barry
    Affiliations
    Dermatology Department, CHU Bordeaux, F:33000 Bordeaux, France

    Bordeaux Institute of Oncology, BRIC U1312, INSERM, Team 5 Translational Research on Oncodermatology and rare skin diseases, Univ. Bordeaux, 33000 Bordeaux, France
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  • Jean-Philippe Merlio
    Affiliations
    Bordeaux Institute of Oncology, BRIC U1312, INSERM, Team 5 Translational Research on Oncodermatology and rare skin diseases, Univ. Bordeaux, 33000 Bordeaux, France

    Department of Tumor Biology, CHU Bordeaux, F:33604 Pessac, France
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  • Author Footnotes
    ∗ contributed equally
    Audrey Gros
    Footnotes
    ∗ contributed equally
    Affiliations
    Bordeaux Institute of Oncology, BRIC U1312, INSERM, Team 5 Translational Research on Oncodermatology and rare skin diseases, Univ. Bordeaux, 33000 Bordeaux, France

    Department of Tumor Biology, CHU Bordeaux, F:33604 Pessac, France
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  • Author Footnotes
    ∗ contributed equally
    Anne Pham-Ledard
    Correspondence
    Corresponding author: Anne Pham-Ledard, U1312, Bordeaux Institute of Oncology, Translational Research on Oncodermatology and rare skin diseases, Bordeaux University, 146 rue Léo Saignat 33076 Bordeaux, France, , tel : +33 5 56 79 47 05 fax +33 5 56 79 49 75
    Footnotes
    ∗ contributed equally
    Affiliations
    Dermatology Department, CHU Bordeaux, F:33000 Bordeaux, France

    Bordeaux Institute of Oncology, BRIC U1312, INSERM, Team 5 Translational Research on Oncodermatology and rare skin diseases, Univ. Bordeaux, 33000 Bordeaux, France
    Search for articles by this author
  • Author Footnotes
    ∗ contributed equally
Published:January 20, 2023DOI:https://doi.org/10.1016/j.jid.2022.12.022
      Liquid biopsy assessment has been first established in solid tumors, allowing the detection of either circulating tumor cells, cell-free vesicles and/or circulating tumor cell-free DNA (ctDNA), in the plasma or other biological fluids. In systemic diffuse large B-cell lymphomas (DLBCL), ctDNA is detectable, reflecting tumor mutational status, and may predict clinical outcome (

      Bohers E, Viailly P-J, Becker S, Marchand V, Ruminy P, Maingonnat C, et al. Non-Invasive Monitoring of Diffuse Large B-Cell Lymphoma by Cell-Free DNA High-Throughput Targeted Sequencing: Analysis of a Prospective Cohort. Blood Cancer J. 2018;1;8(8):74.

      ). In addition, dynamics of ctDNA correlates with clinical response (
      • Kurtz D.M.
      • Esfahani M.S.
      • Scherer F.
      • Soo J.
      • Jin M.C.
      • Liu C.L.
      • et al.
      Dynamic risk profiling using serial tumor biomarkers for personalized outcome Prediction.
      ;

      Deng Q, G Han, N Puebla-Osorio, M Chun John Ma, P Strati, B Chasen, et al. Characteristics of Anti-CD19 CAR T Cell Infusion Products Associated with Efficacy and Toxicity in Patients with Large B Cell Lymphomas. Nat Med. 2020;26 (12): 1878-1887.

      ; Kurtz et al. 2018). Primary cutaneous diffuse large B-cell lymphoma-leg type (PCDLBCL-LT) is an aggressive cutaneous lymphoma, presenting as rapid progressive tumor(s) in elderly (
      • Willemze R.
      • Cerroni L.
      • Kempf W.
      • Berti E.
      • Facchetti F.
      • Swerdlow S.H.
      • Jaffe E.S.
      The 2018 update of the WHO-EORTC classification for primary cutaneous lymphomas.
      ). Mutational landscape of PCDLBCL-LT showed Activated B-cell-like DLBCL canonical mutations, (
      • Mareschal S.
      • Pham-Ledard A.
      • Viailly P.J.
      • Dubois S.
      • Bertrand P.
      • Maingonnat C.
      • et al.
      Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel Sequencing.
      ; Zhou et al. 2018) especially with high prevalence of MYD88L265P (70%) and CD79B (40%) mutations that allows its classification in MCD or C5 subgroup among DLBCL (
      • Schmitz R.
      • Wright G.W.
      • Huang D.W.
      • Johnson C.A.
      • Phelan J.D.
      • Wang J.Q.
      • et al.
      Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma.
      ) (

      Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, et al. 2018. Molecular Subtypes of Diffuse Large B-cell Lymphoma are Associated with Distinct Pathogenic Mechanisms and Outcomes ». Nat Med. 2018;24(5):679-690.

      ). Genetic analysis on primary tumors may be limited by tumor site, sample size but also by spatial and temporal mutational heterogeneity (Condoluci et Rossi 2019;

      Phallen J, Sausen M, Adleff V, Leal A, Hruban C, White J, et alDirect detection of early-stage cancers using circulating tumor DNA. Sci Transl Med. 2017;16;9(403):eaan2415.

      ). Droplet digital PCR (ddPCR) and its increased sensitivity of 0.01% (Diaz et Bardelli 2014) may detect infraclinical systemic involvement and appears appropriate for single hot-spot mutations detection such as MYD88L265P. Next Generation Sequencing (NGS) may be more appropriate to capture the mutational landscape of ctDNA (
      • Galimberti S.
      • Genuardi E.
      • Mazziotta F.
      • Iovino L.
      • Morabito F.
      • Grassi S.
      • et al.
      The Minimal Residual Disease in Non-Hodgkin’s Lymphomas: From the Laboratory to the Clinical Practice.
      ).

      Abbreviations:

      ABC (Activated B-Cell), cfDNA (circulating cell free DNA), ctDNA (circulating cell free tumor DNA), CR (complete response), D (diagnosis), DNA (deoxyribonucleic acid), ddPCR (droplet digital PCR), DLBCL (diffuse large B-cell lymphoma), FFPE (Formalin-Fixed Paraffin Embedded), LDH (lactate dehydrogenase), NA (not available), NGS (Next Generation Sequencing), PCDLBCL-LT (Primary Cutaneous Diffuse Large B-Cell Lymphoma-Leg Type), PCR (polymerase chain reaction), PD (progressive disease), PR (partial response), R-miniCHOP (rituximab, low dose of cyclophosphamide, doxorubicin, vincristine, prednisone), R-Rev (rituximab, Revlimid), R-GEMOX (rituximab, gemcitabine, oxaliplatin), SD (stable disease), SNV (single nucleotidic variation), tDNA (tumor DNA), VAF (variation allelic frequency), W (week)
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