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 et al., 2018
). In addition, dynamics of ctDNA correlates with clinical response (
Kurtz et al., 2019
;
Deng et al., 2020
; 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 et al., 2019
). Mutational landscape of PCDLBCL-LT showed Activated B-cell-like DLBCL canonical
mutations, (
Mareschal et al., 2017
; 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 et al., 2018
) (
Chapuy et al., 2018
). 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 et al., 2017
). 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 et al., 2019
).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)To read this article in full you will need to make a payment
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REFERENCES
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.
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.
- The Future of Cell-Free DNA Testing to Guide Therapeutic Decisions in B-Cell Lymphomas.Cur Opin Hematol. 2019; 26: 281-287
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.
- Liquid Biopsies: Genotyping Circulating Tumor DNA.J Clin Oncol. 2014; 32: 579-586
- Primary Cutaneous Follicle Center Lymphoma and Primary Cutaneous Large B-Cell Lymphoma, Leg Type, Are Both Targeted by Aberrant Somatic Hypermutation but Demonstrate Differential Expression of AID.Blood. 2006; 107: 4926-4929
- The Minimal Residual Disease in Non-Hodgkin’s Lymphomas: From the Laboratory to the Clinical Practice.Front Oncol. 2019; 26: 528
- Dynamic risk profiling using serial tumor biomarkers for personalized outcome Prediction.Cell. 2019; 178: 699-713.e19
- Circulating Tumor DNA Measurements As Early Outcome Predictors in Diffuse Large B-Cell Lymphoma.J Clin Oncol. 2019; 36: 2845-2853
- Enhanced detection of minimal residual disease by targeted sequencing of phased variants in circulating tumor DNA.Nat Biotechnol. 2021; 39: 1537-1547
- Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel Sequencing.J Invest Dermatol. 2017; 137: 1984-1994
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.
- Distinct Biological Subtypes and Patterns of Genome Evolution in Lymphoma Revealed by Circulating Tumor DNA.Sci Transl Med. 2016; 8 (364ra155-364ra155)
- Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma.N Eng J Med. 2018; 378: 1396-1407
- The 2018 update of the WHO-EORTC classification for primary cutaneous lymphomas.Blood. 2019; 133: 1703-1714
- Genomic analyses identify recurrent alterations in immune evasion genes in diffuse large B cell lymphoma, leg type.J Invest Dermatol. 2019; 138: 2365-2376
Article info
Publication history
Accepted:
December 26,
2022
Received in revised form:
December 21,
2022
Received:
October 6,
2022
Publication stage
In Press Journal Pre-ProofFootnotes
DATA AVAILABILITY STATEMENT
No datasets were generated or analyzed during the current study. The subjects consented to the publications of the images (Figure 2).
CONFLICT OF INTEREST STATEMENT : none to declare
Identification
Copyright
© 2023 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.
