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Circulating tumor DNA assisting lymphoma genetic feature profiling and identification

Annals of Hematology(2024)

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摘要
Lymphoma tissue biopsies cannot fully capture genetic features due to accessibility and heterogeneity. We aimed to assess the applicability of circulating tumor DNA (ctDNA) for genomic profiling and disease surveillance in classic Hodgkin lymphoma (cHL), primary mediastinal large B-cell lymphoma (PMBCL), and diffuse large B-cell lymphoma (DLBCL). Tumor tissue and/or liquid biopsies of 49 cHLs, 32 PMBCLs, and 74 DLBCLs were subject to next-generation sequencing targeting 475 genes. The concordance of genetic aberrations in ctDNA and paired tissues was investigated, followed by elevating ctDNA-based mutational landscapes and the correlation between ctDNA dynamics and radiological response/progression. ctDNA exhibited high concordance with tissue samples in cHL (78
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关键词
Circulating tumor DNA,Lymphoma,Classic Hodgkin lymphoma,Primary mediastinal large B-cell lymphoma,Diffuse large B-cell lymphoma,Disease surveillance
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