| http://purl.uniprot.org/citations/22887804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22887804 | http://www.w3.org/2000/01/rdf-schema#comment | "In acute myeloid leukemia (AML), increased ecotropic virus integration site 1 protein homolog (EVI1) gene expression is prognostically unfavorable. Subsets of cases show 3q26 rearrangements, such as inv(3)(q21q26)/t(3;3)(q21;q26), frequently accompanied by chromosome 7 abnormalities. We investigated whether cytogenetically cryptic EVI1 rearrangements may cause EVI1 overexpression in myeloid malignancies without 3q26 abnormalities and investigated 983 patients with AML (n = 606) or myelodysplastic syndromes (MDS; n = 377) with normal karyotype (CN-AML/CN-MDS, n = 594) or chromosome 7 abnormalities (n = 389) for EVI1 rearrangements using interphase FISH. We identified cytogenetically cryptic EVI1 rearrangements in 27 patients (19 AML, 8 MDS): inv(3)(p24q26) [n = 10]; t(3;21)(q26;q11) [n = 9]; and der(7)t(3;7)(q26;q21) [n = 8]. Elevated EVI1 expression was detected in nearly all cases with cryptic EVI1 rearrangements: Median %EVI1/ABL1 was 92.8 (range: 29.8-146.1) in inv(3)(p24q26), 104.9 (41.4-176.3) in t(3;21)(q26;q11), and 101.8 (4.4-210.4) in der(7)t(3;7)(q26;q21). This was similar to median %EVI1/ABL1 of 73.9 (range: 7.3-585.6) in an independent cohort of inv(3)(q21q26)/t(3;3)(q21;q26) and 67.1 (2.3-410.7) in other 3q26/EVI1 rearrangements. Healthy controls showed median EVI1 expression of 0.5 (range: 0.0-5.8). Using SNP microarray and sequencing analyses, the breakpoints of der(7)t(3;7)(q26;q21) were assigned to CDK6 and centromeric of EVI1, and of t(3;21)(q26;q11) to be within EVI1 and NRIP1. Median overall survival in patients with cryptic EVI1 rearrangements was short, comparable to patients with inv(3)(q21q26)/t(3;3)(q21;q26) or other EVI1 rearrangements. Cryptic EVI1 rearrangements contribute to explain the clinical heterogeneity of CN-AML and are associated with elevated EVI1 expression and an unfavorable prognosis. Screening for cryptic EVI1 rearrangements by FISH may be particularly appropriate in CN-AML with elevated EVI1 expression or in AML/MDS patients with chromosome 7 abnormalities."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.org/dc/terms/identifier | "doi:10.1002/gcc.21992"xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/author | "Zenger M."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/author | "Schnittger S."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/author | "Bacher U."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/author | "Haferlach T."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/author | "Kern W."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/author | "Haferlach C."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/author | "Kohlmann A."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/author | "Grossmann V."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/author | "Schindela S."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/name | "Genes Chromosomes Cancer"xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/pages | "1079-1085"xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/title | "Three novel cytogenetically cryptic EVI1 rearrangements associated with increased EVI1 expression and poor prognosis identified in 27 acute myeloid leukemia cases."xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://purl.uniprot.org/core/volume | "51"xsd:string |
| http://purl.uniprot.org/citations/22887804 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22887804 |
| http://purl.uniprot.org/citations/22887804 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22887804 |
| http://purl.uniprot.org/uniprot/#_A0A0C3SFZ7-mappedCitation-22887804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22887804 |
| http://purl.uniprot.org/uniprot/#_C7FEN9-mappedCitation-22887804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22887804 |
| http://purl.uniprot.org/uniprot/#_Q03112-mappedCitation-22887804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22887804 |
| http://purl.uniprot.org/uniprot/#_Q8IU84-mappedCitation-22887804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22887804 |
| http://purl.uniprot.org/uniprot/#_Q8IZU7-mappedCitation-22887804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22887804 |
| http://purl.uniprot.org/uniprot/#_Q9UBK3-mappedCitation-22887804 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22887804 |