FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2623197926> ?p ?o ?g. }

• W2623197926 endingPage "65" @default.
• W2623197926 startingPage "64" @default.
• W2623197926 abstract "Introduction: The mutational profile of cHL is poorly characterized, and the genetics of refractory disease is unknown. This study aims at: i) providing the evidence that the mutational profile of cHL can be tracked by using plasma cfDNA; and ii) characterizing the genetics of newly diagnosed cHL and, for comparative purposes, refractory cHL. Methods: The study includes 29 newly diagnosed and 15 chemorefractory cHL provided with plasma cfDNA and germline gDNA. Paired gDNA from tumor tissue biopsies was available for 17 patients, including 3 cases for which Reed-Sternberg (RS) enriched areas were macrodissected. Plasma cfDNA, normal gDNA and tumor gDNA were subjected to targeted ultra-deep next generation sequencing by using the CAPP-seq strategy and Illumina platforms (sensitivity of 3x10-3). Results: In newly diagnosed cHL patients, genotyping of plasma cfDNA identified non-synonymous somatic mutations in STAT6 (45%), TNFAIP3 (45%), ITPKB(31%), B2M (21%), GNA13 (17%) and XPO1 (10%) among the most recurrent genes. In refractory cHL patients, genotyping of plasma cfDNA identified non-synonymous somatic mutations in GNA13 (36%), ITPKB (29%), ATM (29%), B2M (21%), STAT6 (21%),KMT2D (21%), XPO1 (21%), TET2 (21%) and TNFAIP3 (14%) (Figure 1A-B). Mutations of TET2 were enriched in refractory cHL patients compared to newly diagnosed cases, suggesting that they contributed to the chemorefractory phenotype. Consistently, genotyping of longitudinal samples disclosed the acquisition of TET2 mutations in one refractory patient. By using highly sensitive techniques, most of the mutations discovered in cfDNA were also identified in paired tumor DNA from the tissue biopsy and/or macrodissected RS cells, thus confirming their tumor origin (Figure 1C). By pathway analysis, the mutational profile pointed to the involvement of PI3K/AKT signaling, cytokines signaling, NF-kB signaling and immune escape in cHL. ITPKB (a negative regulator of PI3K) was specifically mutated in cHL across aggressive B cell lymphomas. In RS cells from wild type cases, the ITPKB protein showed a nucleo-cytoplasmic pattern. Conversely, in RS cells from mutated cases, ITPKB localized only in the cytoplasm, pointing to a functional impact of mutations on the subcellular localization of the protein. Consistent with the involvement of ITPKB in PI3K signaling, the L-1236 cHL cell line, that harbored a truncating mutation of ITPKB, was resistant to PI3K inhibitors (RP6530 and AEZS136). Conversely, cHL cell lines harboring a wild type ITPKB (L-540, L-428, KM-H2) maintained sensitivity to these compounds (Figure 1D). Keywords: Hodgkin lymphoma (HL); molecular genetics; Reed-Sternberg cells." @default.
• W2623197926 created "2017-06-15" @default.
• W2623197926 creator A5000611970 @default.
• W2623197926 creator A5002654651 @default.
• W2623197926 creator A5002703557 @default.
• W2623197926 creator A5005592897 @default.
• W2623197926 creator A5009234092 @default.
• W2623197926 creator A5011622095 @default.
• W2623197926 creator A5013201388 @default.
• W2623197926 creator A5015790909 @default.
• W2623197926 creator A5017631081 @default.
• W2623197926 creator A5018323809 @default.
• W2623197926 creator A5033613491 @default.
• W2623197926 creator A5039752042 @default.
• W2623197926 creator A5041745367 @default.
• W2623197926 creator A5042459008 @default.
• W2623197926 creator A5043302833 @default.
• W2623197926 creator A5049503939 @default.
• W2623197926 creator A5053689328 @default.
• W2623197926 creator A5066518317 @default.
• W2623197926 creator A5071347282 @default.
• W2623197926 creator A5075117420 @default.
• W2623197926 creator A5080909838 @default.
• W2623197926 creator A5088953061 @default.
• W2623197926 creator A5091850154 @default.
• W2623197926 date "2017-06-01" @default.
• W2623197926 modified "2023-10-04" @default.
• W2623197926 title "Genotyping of Classical Hodgkin Lymphoma on the Liquid Biopsy" @default.
• W2623197926 doi "https://doi.org/10.1002/hon.2437_51" @default.
• W2623197926 hasPublicationYear "2017" @default.
• W2623197926 type Work @default.
• W2623197926 sameAs 2623197926 @default.
• W2623197926 citedByCount "5" @default.
• W2623197926 countsByYear W26231979262018 @default.
• W2623197926 countsByYear W26231979262020 @default.
• W2623197926 countsByYear W26231979262023 @default.
• W2623197926 crossrefType "journal-article" @default.
• W2623197926 hasAuthorship W2623197926A5000611970 @default.
• W2623197926 hasAuthorship W2623197926A5002654651 @default.
• W2623197926 hasAuthorship W2623197926A5002703557 @default.
• W2623197926 hasAuthorship W2623197926A5005592897 @default.
• W2623197926 hasAuthorship W2623197926A5009234092 @default.
• W2623197926 hasAuthorship W2623197926A5011622095 @default.
• W2623197926 hasAuthorship W2623197926A5013201388 @default.
• W2623197926 hasAuthorship W2623197926A5015790909 @default.
• W2623197926 hasAuthorship W2623197926A5017631081 @default.
• W2623197926 hasAuthorship W2623197926A5018323809 @default.
• W2623197926 hasAuthorship W2623197926A5033613491 @default.
• W2623197926 hasAuthorship W2623197926A5039752042 @default.
• W2623197926 hasAuthorship W2623197926A5041745367 @default.
• W2623197926 hasAuthorship W2623197926A5042459008 @default.
• W2623197926 hasAuthorship W2623197926A5043302833 @default.
• W2623197926 hasAuthorship W2623197926A5049503939 @default.
• W2623197926 hasAuthorship W2623197926A5053689328 @default.
• W2623197926 hasAuthorship W2623197926A5066518317 @default.
• W2623197926 hasAuthorship W2623197926A5071347282 @default.
• W2623197926 hasAuthorship W2623197926A5075117420 @default.
• W2623197926 hasAuthorship W2623197926A5080909838 @default.
• W2623197926 hasAuthorship W2623197926A5088953061 @default.
• W2623197926 hasAuthorship W2623197926A5091850154 @default.
• W2623197926 hasBestOaLocation W26231979261 @default.
• W2623197926 hasConcept C104317684 @default.
• W2623197926 hasConcept C121608353 @default.
• W2623197926 hasConcept C13514818 @default.
• W2623197926 hasConcept C135763542 @default.
• W2623197926 hasConcept C143998085 @default.
• W2623197926 hasConcept C153911025 @default.
• W2623197926 hasConcept C17757408 @default.
• W2623197926 hasConcept C2779529041 @default.
• W2623197926 hasConcept C31467283 @default.
• W2623197926 hasConcept C501734568 @default.
• W2623197926 hasConcept C502942594 @default.
• W2623197926 hasConcept C54355233 @default.
• W2623197926 hasConcept C71924100 @default.
• W2623197926 hasConcept C86803240 @default.
• W2623197926 hasConceptScore W2623197926C104317684 @default.
• W2623197926 hasConceptScore W2623197926C121608353 @default.
• W2623197926 hasConceptScore W2623197926C13514818 @default.
• W2623197926 hasConceptScore W2623197926C135763542 @default.
• W2623197926 hasConceptScore W2623197926C143998085 @default.
• W2623197926 hasConceptScore W2623197926C153911025 @default.
• W2623197926 hasConceptScore W2623197926C17757408 @default.
• W2623197926 hasConceptScore W2623197926C2779529041 @default.
• W2623197926 hasConceptScore W2623197926C31467283 @default.
• W2623197926 hasConceptScore W2623197926C501734568 @default.
• W2623197926 hasConceptScore W2623197926C502942594 @default.
• W2623197926 hasConceptScore W2623197926C54355233 @default.
• W2623197926 hasConceptScore W2623197926C71924100 @default.
• W2623197926 hasConceptScore W2623197926C86803240 @default.
• W2623197926 hasIssue "S2" @default.
• W2623197926 hasLocation W26231979261 @default.
• W2623197926 hasOpenAccess W2623197926 @default.
• W2623197926 hasPrimaryLocation W26231979261 @default.
• W2623197926 hasRelatedWork W1489089338 @default.
• W2623197926 hasRelatedWork W1999953358 @default.
• W2623197926 hasRelatedWork W2002128513 @default.
• W2623197926 hasRelatedWork W2154616695 @default.
• W2623197926 hasRelatedWork W2362650105 @default.

• next