FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4323923202> ?p ?o ?g. }

• W4323923202 endingPage "40" @default.
• W4323923202 startingPage "33" @default.
• W4323923202 abstract "A cohort of leukemia cases is presented with ancillary testing that includes microarray studies, karyotyping, FISH, and RNA sequencing to illustrate clonal evolution. Common evolution etiology with each case is apparent homologous mitotic recombination (HMR). The cohort includes: four cases of Pre B-cell acute lymphoblastic leukemia (B-ALL) with a single translocation derivative (19)t(1;19)(q23.3;p13.3), an acute myelogenous leukemia (AML) case with a paracentric inversion of 11q13.3q23 in both homologues confirmed as a rare KMT2A-MAML2 gene fusion, and a transplant patient in AML relapse with a t(6;11)(6q27;q23) and evolution to an additional derivative 6 chromosome. The PBX1-TCF3 fusion in the t(1;19) B-ALL subgroup has long been associated with clones that show either the balanced translocation (∼25%) or the unbalanced single derivative 19 (∼75%). Evidence from the CMAs and FISH is consistent with HMR initiating at either the PBX1 translocation breakpoint or at a more proximal long arm site that mediates the evolution to the unbalanced form. This is contrary to the previous assumptions of either nondisjunction duplication of the normal homologue with loss of the translocation derivative 1 or an original trisomy 1 that loses the translocation derivative 1. Relapse from an unrelated transplant donor created unique allele dosage ratios in the microarray of the AML patient with the t(6;11) KMT2A-AFDN fusion. An HMR-based evolution initiation site proximal to the 6q27 AFDN fusion gene is evident in the microarray of chromosome 6, the known oncogenic fusion derivative. The HMR selection driver in both AML cases is very likely associated with the DNA doubling of the oncogenic fusions in 6q and 11q, respectively. Since the oncogenic derivatives in the 1;19 cases are clearly the retained derivative 19, selection for the HMR clonal evolution in 1q is apparently based on the known proliferative advantage of extra copies of 1q in B-ALL and other malignancies. Although selection-based HMR can effectively initiate at any site proximal to a driver gene fusion, it appears that the translocation breaksite is common for many translocations. In addition, evidence from HMR evolution related distal 11q mutations, numerous unbalanced CCND1/IGH translocations, and the double MAML2/KMT2A presented in this study suggest that a recombinatorial hot spot exists near the CCND1 gene in many rearrangements or mutations within 11q." @default.
• W4323923202 created "2023-03-12" @default.
• W4323923202 creator A5040281616 @default.
• W4323923202 creator A5053429304 @default.
• W4323923202 creator A5054120368 @default.
• W4323923202 creator A5058342267 @default.
• W4323923202 date "2023-06-01" @default.
• W4323923202 modified "2023-10-14" @default.
• W4323923202 title "Mitotic recombinatory evolution in acute leukemia" @default.
• W4323923202 cites W2012979952 @default.
• W4323923202 cites W2018876185 @default.
• W4323923202 cites W2025331522 @default.
• W4323923202 cites W2091440810 @default.
• W4323923202 cites W2116905337 @default.
• W4323923202 cites W2126800428 @default.
• W4323923202 cites W2164143675 @default.
• W4323923202 cites W2209081858 @default.
• W4323923202 cites W2896048754 @default.
• W4323923202 cites W2963220887 @default.
• W4323923202 cites W3008223363 @default.
• W4323923202 cites W3202465254 @default.
• W4323923202 cites W323375493 @default.
• W4323923202 doi "https://doi.org/10.1016/j.cancergen.2023.02.003" @default.
• W4323923202 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36966725" @default.
• W4323923202 hasPublicationYear "2023" @default.
• W4323923202 type Work @default.
• W4323923202 citedByCount "0" @default.
• W4323923202 crossrefType "journal-article" @default.
• W4323923202 hasAuthorship W4323923202A5040281616 @default.
• W4323923202 hasAuthorship W4323923202A5053429304 @default.
• W4323923202 hasAuthorship W4323923202A5054120368 @default.
• W4323923202 hasAuthorship W4323923202A5058342267 @default.
• W4323923202 hasConcept C104317684 @default.
• W4323923202 hasConcept C111829193 @default.
• W4323923202 hasConcept C138626823 @default.
• W4323923202 hasConcept C15151550 @default.
• W4323923202 hasConcept C165237769 @default.
• W4323923202 hasConcept C206936463 @default.
• W4323923202 hasConcept C2778461978 @default.
• W4323923202 hasConcept C2779066155 @default.
• W4323923202 hasConcept C2779672484 @default.
• W4323923202 hasConcept C30481170 @default.
• W4323923202 hasConcept C502942594 @default.
• W4323923202 hasConcept C53226629 @default.
• W4323923202 hasConcept C54355233 @default.
• W4323923202 hasConcept C86803240 @default.
• W4323923202 hasConceptScore W4323923202C104317684 @default.
• W4323923202 hasConceptScore W4323923202C111829193 @default.
• W4323923202 hasConceptScore W4323923202C138626823 @default.
• W4323923202 hasConceptScore W4323923202C15151550 @default.
• W4323923202 hasConceptScore W4323923202C165237769 @default.
• W4323923202 hasConceptScore W4323923202C206936463 @default.
• W4323923202 hasConceptScore W4323923202C2778461978 @default.
• W4323923202 hasConceptScore W4323923202C2779066155 @default.
• W4323923202 hasConceptScore W4323923202C2779672484 @default.
• W4323923202 hasConceptScore W4323923202C30481170 @default.
• W4323923202 hasConceptScore W4323923202C502942594 @default.
• W4323923202 hasConceptScore W4323923202C53226629 @default.
• W4323923202 hasConceptScore W4323923202C54355233 @default.
• W4323923202 hasConceptScore W4323923202C86803240 @default.
• W4323923202 hasLocation W43239232021 @default.
• W4323923202 hasLocation W43239232022 @default.
• W4323923202 hasOpenAccess W4323923202 @default.
• W4323923202 hasPrimaryLocation W43239232021 @default.
• W4323923202 hasRelatedWork W1967767575 @default.
• W4323923202 hasRelatedWork W1970062917 @default.
• W4323923202 hasRelatedWork W1999048322 @default.
• W4323923202 hasRelatedWork W2052294818 @default.
• W4323923202 hasRelatedWork W2069767497 @default.
• W4323923202 hasRelatedWork W2084055563 @default.
• W4323923202 hasRelatedWork W2110033346 @default.
• W4323923202 hasRelatedWork W2127084674 @default.
• W4323923202 hasRelatedWork W4323923202 @default.
• W4323923202 hasRelatedWork W4366595017 @default.
• W4323923202 hasVolume "274-275" @default.
• W4323923202 isParatext "false" @default.
• W4323923202 isRetracted "false" @default.
• W4323923202 workType "article" @default.