http://purl.uniprot.org/citations/28214896 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/28214896 | http://www.w3.org/2000/01/rdf-schema#comment | "We present a comprehensive comparison of PAX5,IKZF1, and CDKN2A/B abnormalities in 21 B-cell precursor acute lymphoblastic leukemia (B-ALL) patients studied by aCGH and gene-specific FISH assays. In our cohort of B-ALL patients, alterations of IKZF1, PAX5, and CDKN2A/B were detected by aCGH analysis in 43, 52, and 57% of samples, respectively. Deletions of IKZF1 were present in 9 samples, including 5 cases positive for both PAX5 and IKZF1 deletions, implying digenic impairment. Furthermore, all cases with IKZF1 deletions also had additional genomic alterations, including BCR-ABL1 gene fusions, PAX5 deletions, CDKN2A/B deletions, and FLT3 amplification. Deletions of CDKN2A/B represented the most frequent abnormalities in our group of patients. Our study demonstrates the high incidence of PAX5, IKZF1, and CDKN2A/B alterations in B-ALL detected by aCGH analysis. Due to the small size and variability in the deletion breakpoints, FISH studies showed false-negative results in 10, 40, and 28% of the samples tested for the IKZF1,PAX5, and CDKN2A/B gene deletions, respectively. The PAX5 and IKZF1 abnormalities are highly specific to B-ALL and can be used as diagnostic markers. Moreover, IKZF1 alterations frequently coexist with a BCR-ABL gene fusion. Our study revealed multiple additional B-ALL-specific genomic alterations and showed that aCGH is a more sensitive method than FISH, allowing whole genome profiling and identification of aberrations of diagnostic and prognostic significance in patients with B-ALL."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.org/dc/terms/identifier | "doi:10.1159/000456572"xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Hu J."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Gollin S.M."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Casey J."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Surti U."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Yatsenko S.A."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Ou Z."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Sherer M."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Bakos H.A."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Friehling E."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/author | "Vitullo K."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/name | "Cytogenet Genome Res"xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/pages | "242-252"xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/title | "The Genomic Landscape of PAX5, IKZF1, and CDKN2A/B Alterations in B-Cell Precursor Acute Lymphoblastic Leukemia."xsd:string |
http://purl.uniprot.org/citations/28214896 | http://purl.uniprot.org/core/volume | "150"xsd:string |
http://purl.uniprot.org/citations/28214896 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28214896 |
http://purl.uniprot.org/citations/28214896 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/28214896 |
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