Circulating tumor DNA in primary mediastinal large B-cell lymphoma versus classical Hodgkin lymphoma: a retrospective study

Camus, Vincent; Viennot, Mathieu; Lévêque, Émilie; Viailly, Pierre‐Julien; Tonnelet, David; Veresezan, Elena-Liana; Drieux, Fanny; Étancelin, Pascaline; Dubois, Sydney; Stamatoullas, Aspasia; Tilly, Hervé; Bohers, Élodie; Jardin, Fabrice

doi:10.1080/10428194.2021.2010060

Cited by 10 publications

(9 citation statements)

References 57 publications

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“…Here, we have analyzed the applicability of cfDNA as a reliable source for mutational and CNA assessment of PMBL patients in whom diagnostic biopsies are often difficult to obtain. Indeed, the information about the utility of cfDNA in PMBL is scarce, with only one recently published report [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

“…In the present series, we were able to detect mutations in the cfDNA in 18 out of 20 (90%) cases, a similar rate to that reported in other lymphoma series, including a DLBCL cohort from our own institution [ 10 , 11 ]. Camus et al [ 20 ] reported the mutational profile of 44 patients with PMBL using an abridged targeted panel of nine genes, detecting at least one mutation in 32 (73%) patients. The higher detection rate obtained in our study could be explained by the fact that we have used a broader gene panel including analysis of CNA and we have used molecular-barcode technology to improve background removal in the analysis of sequencing data and increase sensitivity.…”

Section: Discussionmentioning

confidence: 99%

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Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma

et al. 2022

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High-throughput sequencing of cell-free DNA (cfDNA) has emerged as a promising noninvasive approach in lymphomas, being particularly useful when a biopsy specimen is not available for molecular analysis, as it frequently occurs in primary mediastinal large B-cell lymphoma (PMBL). We used cfDNA for genomic characterization in 20 PMBL patients by means of a custom NGS panel for gene mutations and low-pass whole-genome sequencing (WGS) for copy number analysis (CNA) in a real-life setting. Appropriate cfDNA to perform the analyses was obtained in 18/20 cases. The sensitivity of cfDNA to detect the mutations present in paired FFPE samples was 69% (95% CI:60–78%). The mutational landscape found in cfDNA samples was highly consistent with that of the tissue, with the most frequently mutated genes being B2M (61%), SOCS1 (61%), GNA13 (44%), STAT6 (44%), NFKBIA (39%), ITPKB (33%), and NFKBIE (33%). Overall, we observed a 75% concordance to detect CNA gains/losses between DNA microarray and low-pass WGS. The sensitivity of low-pass WGS was remarkably higher for clonal CNA (18/20, 90%) compared to subclonal alterations identified by DNA microarray. No significant associations between cfDNA amount and tumor burden or outcome were found. cfDNA is an excellent alternative source for the accurate genetic characterization of PMBL cases.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma

et al. 2022

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“…One frequent alteration in the SOCS1 gene, which is detected in approximately 50% of cHL cases [4], has been proposed as a potential biomarker, but common variants consist of truncating mutations and indels, which are technically challenging to detect in plasma. The XPO1 E571K mutation has been repeatedly detected in both tissue and plasma samples and has also been proposed as a biomarker for use in the diagnosis and detection of MRD [13‐15]. However, the detection frequency of the XPO1 in primary tumors was significantly lower [15] and was described only in 10%–15% of ctDNA patients samples [15, 16].…”

Section: Discussionmentioning

confidence: 99%

Circulating tumor DNA for monitoring classic Hodgkin lymphoma patients: Correlation with FDG‐PET/CT

Fernández,

Cereceda,

Díaz

et al. 2023

eJHaem

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The value of circulating tumor DNA (ctDNA) as a biomarker of disease activity in classic Hodgkin lymphoma (cHL) patients has not yet been well established. By profiling primary tumors and ctDNA, we identified common variants between primary tumors and longitudinal plasma samples in most of the cases, confirming high spatial and temporal heterogeneity. Although ctDNA analyses mirrored HRS cell genetics overall, the prevalence of variants shows that none of them can be used as a single biomarker. Conversely, the estimation of hGE/mL, based on measures of total ctDNA, reflects disease activity and is almost perfectly correlated with standard parameters such as PET/CT that are associated with refractoriness.

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“…It might be one of the considerations that should be taken into account for generalizability evaluations. Moreover, investigating the usefulness of incorporating clinical factors such as blood test parameters could be beneficial (i.e., ctDNA [ 63 ]).…”

Section: Discussionmentioning

confidence: 99%

Evaluating Outcome Prediction via Baseline, End-of-Treatment, and Delta Radiomics on PET-CT Images of Primary Mediastinal Large B-Cell Lymphoma

Yousefirizi,

Gowdy,

Klyuzhin

et al. 2024

Cancers

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Objectives: Accurate outcome prediction is important for making informed clinical decisions in cancer treatment. In this study, we assessed the feasibility of using changes in radiomic features over time (Delta radiomics: absolute and relative) following chemotherapy, to predict relapse/progression and time to progression (TTP) of primary mediastinal large B-cell lymphoma (PMBCL) patients. Material and Methods: Given the lack of standard staging PET scans until 2011, only 31 out of 103 PMBCL patients in our retrospective study had both pre-treatment and end-of-treatment (EoT) scans. Consequently, our radiomics analysis focused on these 31 patients who underwent [18F]FDG PET-CT scans before and after R-CHOP chemotherapy. Expert manual lesion segmentation was conducted on their scans for delta radiomics analysis, along with an additional 19 EoT scans, totaling 50 segmented scans for single time point analysis. Radiomics features (on PET and CT), along with maximum and mean standardized uptake values (SUVmax and SUVmean), total metabolic tumor volume (TMTV), tumor dissemination (Dmax), total lesion glycolysis (TLG), and the area under the curve of cumulative standardized uptake value-volume histogram (AUC-CSH) were calculated. We additionally applied longitudinal analysis using radial mean intensity (RIM) changes. For prediction of relapse/progression, we utilized the individual coefficient approximation for risk estimation (ICARE) and machine learning (ML) techniques (K-Nearest Neighbor (KNN), Linear Discriminant Analysis (LDA), and Random Forest (RF)) including sequential feature selection (SFS) following correlation analysis for feature selection. For TTP, ICARE and CoxNet approaches were utilized. In all models, we used nested cross-validation (CV) (with 10 outer folds and 5 repetitions, along with 5 inner folds and 20 repetitions) after balancing the dataset using Synthetic Minority Oversampling TEchnique (SMOTE). Results: To predict relapse/progression using Delta radiomics between the baseline (staging) and EoT scans, the best performances in terms of accuracy and F1 score (F1 score is the harmonic mean of precision and recall, where precision is the ratio of true positives to the sum of true positives and false positives, and recall is the ratio of true positives to the sum of true positives and false negatives) were achieved with ICARE (accuracy = 0.81 ± 0.15, F1 = 0.77 ± 0.18), RF (accuracy = 0.89 ± 0.04, F1 = 0.87 ± 0.04), and LDA (accuracy = 0.89 ± 0.03, F1 = 0.89 ± 0.03), that are higher compared to the predictive power achieved by using only EoT radiomics features. For the second category of our analysis, TTP prediction, the best performer was CoxNet (LASSO feature selection) with c-index = 0.67 ± 0.06 when using baseline + Delta features (inclusion of both baseline and Delta features). The TTP results via Delta radiomics were comparable to the use of radiomics features extracted from EoT scans for TTP analysis (c-index = 0.68 ± 0.09) using CoxNet (with SFS). The performance of Deauville Score (DS) for TTP was c-index = 0.66 ± 0.09 for n = 50 and 0.67 ± 03 for n = 31 cases when using EoT scans with no significant differences compared to the radiomics signature from either EoT scans or baseline + Delta features (p-value> 0.05). Conclusion: This work demonstrates the potential of Delta radiomics and the importance of using EoT scans to predict progression and TTP from PMBCL [18F]FDG PET-CT scans.

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Circulating tumor DNA in primary mediastinal large B-cell lymphoma versus classical Hodgkin lymphoma: a retrospective study

Cited by 10 publications

References 57 publications

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma

Circulating tumor DNA for monitoring classic Hodgkin lymphoma patients: Correlation with FDG‐PET/CT

Evaluating Outcome Prediction via Baseline, End-of-Treatment, and Delta Radiomics on PET-CT Images of Primary Mediastinal Large B-Cell Lymphoma

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