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Discovery of novel recurrent mutations and clinically meaningful subgroups in nodal marginal zone lymphoma
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Koh, Jiwon | - |
dc.contributor.author | Jang, Insoon | - |
dc.contributor.author | Choi, Seongmin | - |
dc.contributor.author | Kim, Sehui | - |
dc.contributor.author | Jang, Ingeon | - |
dc.contributor.author | Ahn, Hyun Kyung | - |
dc.contributor.author | Lee, Cheol | - |
dc.contributor.author | Paik, Jin Ho | - |
dc.contributor.author | Kim, Chul Woo | - |
dc.contributor.author | Lim, Megan S. | - |
dc.contributor.author | Kim, Kwangsoo | - |
dc.contributor.author | Jeon, Yoon Kyung | - |
dc.date.accessioned | 2023-05-08T00:33:59Z | - |
dc.date.available | 2023-05-08T00:33:59Z | - |
dc.date.created | 2020-08-13 | - |
dc.date.created | 2020-08-13 | - |
dc.date.created | 2020-08-13 | - |
dc.date.issued | 2020-06 | - |
dc.identifier.citation | Cancers, Vol.12 No.6, pp.1669-17 | - |
dc.identifier.issn | 2072-6694 | - |
dc.identifier.uri | https://hdl.handle.net/10371/191890 | - |
dc.description.abstract | Nodal marginal zone lymphoma (NMZL) is a rare B-cell neoplasm, the genetic and transcriptomic landscape of which are unclear. Using high-throughput sequencing for whole-exome and transcriptome, we investigated the genetic characteristics of NMZL in a discovery cohort (n= 8) and validated their features in an extended cohort (n= 30). Novel mutations inNFKBIEandITPR2were found in 7.9% (3/38) and 13.9% (5/36), respectively, suggesting roles for the NF-kappa B pathway and B-cell-receptor-mediated calcium signaling pathway in the pathogenesis of NMZL. RNA-seq showed that NMZLs were characterized by an aberrant marginal zone differentiation, associated with an altered IRF4-NOTCH2 axis and the enrichment of various oncogenic pathways. Based on gene expression profile, two subgroups were identified. Compared with subgroup 1, subgroup 2 showed the following: the significant enrichment of cell cycle-associated and MYC-signaling pathways, a more diverse repertoire of upstream regulators, and higher Ki-67 proliferation indices. We designated two subgroups according to Ki-67 labeling, and subgroup 2 was significantly associated with a shorter progression-free survival (p= 0.014), a greater proportion of large cells (p= 0.009), and higher MYC expression (p= 0.026). We suggest that NMZL has unique features and, in this study, we provide information as to the heterogeneity of this enigmatic entity. | - |
dc.language | 영어 | - |
dc.publisher | Multidisciplinary Digital Publishing Institute (MDPI) | - |
dc.title | Discovery of novel recurrent mutations and clinically meaningful subgroups in nodal marginal zone lymphoma | - |
dc.type | Article | - |
dc.identifier.doi | 10.3390/cancers12061669 | - |
dc.citation.journaltitle | Cancers | - |
dc.identifier.wosid | 000549460000001 | - |
dc.identifier.scopusid | 2-s2.0-85086922878 | - |
dc.citation.endpage | 17 | - |
dc.citation.number | 6 | - |
dc.citation.startpage | 1669 | - |
dc.citation.volume | 12 | - |
dc.description.isOpenAccess | Y | - |
dc.contributor.affiliatedAuthor | Paik, Jin Ho | - |
dc.contributor.affiliatedAuthor | Jeon, Yoon Kyung | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.subject.keywordPlus | B-CELL LYMPHOMA | - |
dc.subject.keywordPlus | EXPRESSION | - |
dc.subject.keywordPlus | EPSILON | - |
dc.subject.keywordPlus | GENES | - |
dc.subject.keywordAuthor | malignant lymphoma | - |
dc.subject.keywordAuthor | marginal zone lymphoma | - |
dc.subject.keywordAuthor | genetics | - |
dc.subject.keywordAuthor | whole exome sequencing | - |
dc.subject.keywordAuthor | RNA sequencing | - |
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