Advances in the assessment of minimal residual disease in mantle cell lymphoma

Jung, Da-Young; Jain, Preetesh; Yao, Yixin; Wang, Michael

doi:10.1186/s13045-020-00961-8

Cited by 23 publications

(19 citation statements)

References 76 publications

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“…The cMCL subtype generally exhibits an unmutated or minimally mutated CDR3 region [ 54 ]. The core mechanism in the malignant transformation of MCL has been demonstrated to be a translocation involving chromosomes 11 and 14 (t(11;14)(q13,32), CCND1 /IGH), leading to the overexpression of CCND1 protein [ 5 , 61 , 62 ], while other cases may be driven by a CCND2 or CCND3 translocation with IGK or IGL [ 63 ]. Aberrant translocation events in MCL can occur in V(D)J recombination, SHM, or CSR based on the DSBs formed during these processes [ 44 ].…”

Section: The Oncogenesis Of B-lineage Malignancies and The Correspond...mentioning

confidence: 99%

“…After the initial diagnosis of B-lineage malignancy was confirmed by clinical symptoms, imaging manifestations, and histopathological examinations, the BM aspirate samples were preserved and subjected to high-throughput sequencing. Index clones were identified in these samples by the following criteria: (1) the proportion of index clones needs to be at least 3% of all sequences at the specific locus, (2) the frequency of cells that carry index clones needs to be at least 0.2% of all nucleated cells [ 5 ], and (3) other criteria in kits designed by different companies [ 14 ]. By using the algorithm of exact match and up to 2-bp mismatches, the disease clones in follow-up samples were compared with the initial index clones in diagnostic samples, based on which the presence or absence of MRD was identified, and the quantity of MRD was calculated [ 18 ].…”

Section: Mrd Monitoring Through Clonality Assessment By Ngsmentioning

confidence: 99%

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Next-generation sequencing for MRD monitoring in B-lineage malignancies: from bench to bedside

et al. 2022

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Minimal residual disease (MRD) is considered the strongest relevant predictor of prognosis and an effective decision-making factor during the treatment of hematological malignancies. Remarkable breakthroughs brought about by new strategies, such as epigenetic therapy and chimeric antigen receptor-T (CAR-T) therapy, have led to considerably deeper responses in patients than ever, which presents difficulties with the widely applied gold-standard techniques of MRD monitoring. Urgent demands for novel approaches that are ultrasensitive and provide sufficient information have put a spotlight on high-throughput technologies. Recently, advances in methodology, represented by next-generation sequencing (NGS)-based clonality assays, have proven robust and suggestive in numerous high-quality studies and have been recommended by some international expert groups as disease-monitoring modalities. This review demonstrates the applicability of NGS-based clonality assessment for MRD monitoring of B-cell malignancies by summarizing the oncogenesis of neoplasms and the corresponding status of immunoglobulin (IG) rearrangements. Furthermore, we focused on the performance of NGS-based assays compared with conventional approaches and the interpretation of results, revealing directions for improvement and prospects in clinical practice.

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Section: The Oncogenesis Of B-lineage Malignancies and The Correspond...mentioning

confidence: 99%

Section: Mrd Monitoring Through Clonality Assessment By Ngsmentioning

confidence: 99%

Next-generation sequencing for MRD monitoring in B-lineage malignancies: from bench to bedside

et al. 2022

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“…cIg DNA is routinely used on tissue biopsies to aid in the diagnosis of lymphoma and is increasingly being assessed in plasma cfDNA as a disease monitoring marker, particularly for mantle cell lymphoma. 29 However, the analysis of cIg DNA in cfDNA has not previously been used to facilitate the diagnosis of lymphoma. Traditionally, definitive diagnosis requires a biopsy of suspicious lesions identified by physical examination and/or imaging during the healthcare practitioner interval.…”

Section: Discussionmentioning

confidence: 99%

Feasibility of Cell-Free DNA Collection and Clonal Immunoglobulin Sequencing in South African Patients With HIV-Associated Lymphoma

Vogt¹,

Patel

Lakha

et al. 2021

JCO Global Oncology

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PURPOSE Diagnosis of AIDS lymphoma in low-resource settings, like South Africa, is often delayed, leaving patients with limited treatment options. In tuberculosis (TB) endemic regions, overlapping signs and symptoms often lead to diagnostic delays. Assessment of plasma cell-free DNA (cfDNA) by next-generation sequencing (NGS) may expedite the diagnosis of lymphoma but requires high-quality cfDNA. METHODS People living with HIV with newly diagnosed aggressive B-cell lymphoma and those with newly diagnosed TB seeking care at Chris Hani Baragwanath Academic Hospital and its surrounding clinics, in Soweto, South Africa, were enrolled in this study. Each participant provided a whole blood specimen collected in cell-stabilizing tubes. Quantity and quality of plasma cfDNA were assessed. NGS of the immunoglobulin heavy chain was performed. RESULTS Nine HIV+ patients with untreated lymphoma and eight HIV+ patients with TB, but without lymphoma, were enrolled. All cfDNA quantity and quality metrics were similar between the two groups, except that cfDNA accounted for a larger fraction of recovered plasma DNA in patients with lymphoma. The concentration of cfDNA in plasma also trended higher in patients with lymphoma. NGS of immunoglobulin heavy chain showed robust amplification of DNA, with large amplicons (> 250 bp) being more readily detected in patients with lymphoma. Clonal sequences were detected in five of nine patients with lymphoma, and none of the patients with TB. CONCLUSION This proof-of-principle study demonstrates that whole blood collected for cfDNA in a low-resource setting is suitable for sophisticated sequencing analyses, including clonal immunoglobulin NGS. The detection of clonal sequences in more than half of patients with lymphoma shows promise as a diagnostic marker that may be explored in future studies.

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“…Its management is variable, depending on the risk and patient performance status, and includes chemotherapy, immunotherapy, or autologous stem cell transplantation. The MRD is not very standardized, although some studies have been conducted using the PCR amplification of IgH rearrangements, demonstrating an impact on the clinical outcomes of the patient after autologous transplantation [ 114 , 115 , 116 ]. Lakhotia et al used NGS to detect Ig heavy and light chains, and CCND1 and BCL2 gene mutations in ctDNA; they concluded that the baseline ctDNA correlated with the total metabolic tumor volume on the PET scans, and the clearance of ctDNA after one cycle of DA-EPOCH-R + BZ was strongly associated with a superior median PFS (76.4 vs. 20.7 months, p = 0.0037) and a trend toward a superior four-year overall survival (OS) (92.3% vs. 73.0%, p = 0.23).…”

Section: Lymphoid Malignanciesmentioning

confidence: 99%

The Minimal Residual Disease Using Liquid Biopsies in Hematological Malignancies

Colmenares

Álvarez

Barrio

et al. 2022

Cancers

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The study of cell-free DNA (cfDNA) and other peripheral blood components (known as “liquid biopsies”) is promising, and has been investigated especially in solid tumors. Nevertheless, it is increasingly showing a greater utility in the diagnosis, prognosis, and response to treatment of hematological malignancies; in the future, it could prevent invasive techniques, such as bone marrow (BM) biopsies. Most of the studies about this topic have focused on B-cell lymphoid malignancies; some of them have shown that cfDNA can be used as a novel way for the diagnosis and minimal residual monitoring of B-cell lymphomas, using techniques such as next-generation sequencing (NGS). In myelodysplastic syndromes, multiple myeloma, or chronic lymphocytic leukemia, liquid biopsies may allow for an interesting genomic representation of the tumor clones affecting different lesions (spatial heterogeneity). In acute leukemias, it can be helpful in the monitoring of the early treatment response and the prediction of treatment failure. In chronic lymphocytic leukemia, the evaluation of cfDNA permits the definition of clonal evolution and drug resistance in real time. However, there are limitations, such as the difficulty in obtaining sufficient circulating tumor DNA for achieving a high sensitivity to assess the minimal residual disease, or the lack of standardization of the method, and clinical studies, to confirm its prognostic impact. This review focuses on the clinical applications of cfDNA on the minimal residual disease in hematological malignancies.

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Advances in the assessment of minimal residual disease in mantle cell lymphoma

Cited by 23 publications

References 76 publications

Next-generation sequencing for MRD monitoring in B-lineage malignancies: from bench to bedside

Next-generation sequencing for MRD monitoring in B-lineage malignancies: from bench to bedside

Feasibility of Cell-Free DNA Collection and Clonal Immunoglobulin Sequencing in South African Patients With HIV-Associated Lymphoma

The Minimal Residual Disease Using Liquid Biopsies in Hematological Malignancies

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