{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T21:20:25Z","timestamp":1790716825308,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T00:00:00Z","timestamp":1666828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070166"],"award-info":[{"award-number":["82070166"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770172"],"award-info":[{"award-number":["81770172"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molecular Carcinogenesis"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Liquid biopsy has been experimented with to identify the mutation of lymphoma based on next\u2010generation sequencing (NGS). We applied NGS analysis to circulating tumor DNA (ctDNA) in 20 lymphoma patients. Then, we compared treatment outcomes, and clinical characteristics among these patients, then investigated mutational profiling. Two independent cohorts of 241 patients with mature B cell lymphoma in Mature B\u2010cell malignancies data set (MBN) data set and 50 diffuse large B\u2010cell lymphoma (DLBCL) patients in DLBCL data set, were used to examine the association between gene mutations and prognosis. We found ctDNA positive group had significantly more relapsed\/PD (7\/12, 58.3%) and less CR\/PR patients (1\/12, 8.3%) compared to negative group (0, 0%) (5\/8, 62.5%) (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). Somatic alterations were identified in 12 of 20 patients and the total 11 mutations were: Ataxia telangiectasia mutated (<jats:italic>ATM)<\/jats:italic>, <jats:italic>TP53<\/jats:italic>, <jats:italic>BCL2<\/jats:italic>, <jats:italic>BTG2<\/jats:italic>, <jats:italic>CD28<\/jats:italic>, <jats:italic>EP300<\/jats:italic>, <jats:italic>IDH2<\/jats:italic>, <jats:italic>IRF8<\/jats:italic>, <jats:italic>JAK3<\/jats:italic>, <jats:italic>NOTCH1<\/jats:italic>, and <jats:italic>NRAS<\/jats:italic>. <jats:italic>ATM<\/jats:italic> (S2168L) was found in SLL and TLBL for the first time. <jats:italic>BTG2<\/jats:italic> (c.292_293del), <jats:italic>CD28<\/jats:italic> (P119T), <jats:italic>IRF8<\/jats:italic> (E74D) and <jats:italic>NOTCH1<\/jats:italic> (c.4348\u2009G\u2009&gt;\u2009A) were newly detected in DLBCL, angioimmunoblastic T\u2010cell lymphoma, primary central nervous system lymphoma, and BCL for the first time respectively. We also disclosed an unreported mutation <jats:italic>EP300<\/jats:italic> (c.1058_1059insC) in DLBCL. Our cases implied ctDNA detection consistent with the FISH of tissue samples to some extent, speculating new molecular subtypes of DLBCL, finding some potential drug\u2010resistant mutations, and suggesting disease recurrence. Moreover, in MBN and DLBCL datasets, patients with <jats:italic>TP53<\/jats:italic> mutation had a significantly shorter OS (all <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) in both circulating free DNA and tumor tissue. The mutations (no SNP) of <jats:italic>NOTCH1<\/jats:italic> (all <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) significantly contributed to worse OS in the two cohorts.<\/jats:p>","DOI":"10.1002\/mc.23476","type":"journal-article","created":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T12:33:48Z","timestamp":1666874028000},"page":"200-209","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mutational profiling of circulating tumor DNA and clinical characteristics in lymphoma: Based on next generation sequencing"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0806-9083","authenticated-orcid":false,"given":"Yue","family":"Hou","sequence":"first","affiliation":[{"name":"Department of Hematology School of Medicine,\u00a0Zhongda Hospital, Institute of Hematology Southeast University, Southeast University  Nanjing 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