![]() ![]() On the contrary, the frequencies of STAT6 (68.57% vs. The most frequently detected genetic alterations in PMBCL and cHL were STAT6 (68.57% vs. ![]() Comparisons of mutational profiles among PMBCL, cHL, and DLBCL showed similar mutational profiles between PMBCL and cHL. MAFs were higher in the tissue compared with the plasma (23.35% vs. Of these, 273 (56.29%) alterations were shared variants, 74 (15.28%) were unique to the plasma sample and 138 (28.45%) were unique to the tissue. In 18 PMBCL patients, who had paired plasma and tumor samples, similar number of genetic alterations were detected (Total=347 vs. Mutant allele frequencies (MAFs) were also lower in the tissue than in the plasma, with a median of 1.71% vs 2.99% (P<0.01). Of these, 320 (59.15%) were unique to the plasma, whereas 69 (12.15%) were only found in the tissue. Results: Analysis of matched tumor and plasma samples from 38 cHL patients revealed 152 (28.10%) overlapping genetic alterations, with a higher number of mutations detected in the plasma compared to tissue (Total=472 vs. Methods: Tissue and/or plasma samples from a total of 35 PMBCL patients, 52 cHL patients and 81 DLBCL patients that were subjected to targeted next-generation sequencing (NGS) using a 475 cancer-related gene panel were included in the analysis. In this study, we characterized the molecular features of PMBCL and cHL in the Chinese population utilizing both tissue-based and liquid biopsies. Cell-free DNA (cfDNA) has emerged as a promising non-invasive approach for molecular profiling in lymphomas. Much of the molecular characterization relied on availability of tissue samples. Background: Primary mediastinal large B-cell lymphoma (PMBCL), arising from thymic medullary B cells, shares molecular features with classic Hodgkin lymphoma (cHL), including activation of JAK/STAT and Nuclear Factor Kappa B (NF-ƙB) pathways, as well as PD-L1 mediated immune evasion. ![]()
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