| http://purl.uniprot.org/citations/32219447 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32219447 | http://www.w3.org/2000/01/rdf-schema#comment | "Acute myeloid leukemia (AML) with inv(3)/t(3;3)(q21q26) is a distinct World Health Organization recognized entity, characterized by its aggressive course and poor prognosis. In this subtype of AML, the translocation of a GATA2 enhancer (3q21) to MECOM (3q26) results in overexpression of the MECOM isoform EVI1 and monoallelic expression of GATA2 from the unaffected allele. The full-length MECOM transcript, MDS1-EVI1, is not expressed as the result of the 3q26 rearrangement. Besides the classical inv(3)/t(3;3), a number of other 3q26/MECOM rearrangements with poor treatment response have been reported in AML. Here, we demonstrate, in a group of 33 AML patients with atypical 3q26 rearrangements, MECOM involvement with EVI1 overexpression but no or low MDS1-EVI1 levels. Moreover, the 3q26 translocations in these AML patients often involve superenhancers of genes active in myeloid development (eg, CD164, PROM1, CDK6, or MYC). In >50% of these cases, allele-specific GATA2 expression was observed, either by copy-number loss or by an unexplained allelic imbalance. Altogether, atypical 3q26 recapitulate the main leukemic mechanism of inv(3)/t(3;3) AML, namely EVI1 overexpression driven by enhancer hijacking, absent MDS1-EVI1 expression and potential GATA2 involvement. Therefore, we conclude that both atypical 3q26/MECOM and inv(3)/t(3;3) can be classified as a single entity of 3q26-rearranged AMLs. Routine analyses determining MECOM rearrangements and EVI1 and MDS1-EVI1 expression are required to recognize 3q-rearranged AML cases."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.org/dc/terms/identifier | "doi:10.1182/blood.2019003701"xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Smeenk L."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Delwel R."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Valk P.J.M."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Beverloo H.B."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "van der Helm R."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Haferlach T."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Haferlach C."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Erpelinck C."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Bindels E."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Grob T."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Havermans M."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Mulet-Lazaro R."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "Ottema S."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/author | "van Herk S."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/name | "Blood"xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/pages | "224-234"xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/title | "Atypical 3q26/MECOM rearrangements genocopy inv(3)/t(3;3) in acute myeloid leukemia."xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://purl.uniprot.org/core/volume | "136"xsd:string |
| http://purl.uniprot.org/citations/32219447 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32219447 |
| http://purl.uniprot.org/citations/32219447 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/32219447 |
| http://purl.uniprot.org/uniprot/#_A0A0C3SFZ7-mappedCitation-32219447 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/32219447 |