{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(5)"],"submitter":["Panagopoulos I"],"pubmed_abstract":["An acute myeloid leukemia was suspected of having a t(8;16)(p11;p13) resulting in a KAT6A-CREBBP fusion because the bone marrow was packed with monoblasts showing marked erythrophagocytosis. The diagnostic karyotype was 46,XY,add(1)(p13),t(8;21)(p11;q22),der(16)t(1;16)(p13;p13)[9]/46,XY[1]; thus, no direct confirmation of the suspicion could be given although both 8p11 and 16p13 seemed to be rearranged. The leukemic cells were examined in two ways to find out whether a cryptic KAT6A-CREBBP was present. The first was the \"conventional\" approach: G-banding was followed by fluorescence in situ hybridization (FISH) and reverse transcription PCR (RT-PCR). The second was RNA-Seq followed by data analysis using FusionMap and FusionFinder programs with special emphasis on candidates located in the"],"journal":["PloS one"],"pagination":["e96570"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4010518"],"repository":["biostudies-literature"],"pubmed_title":["Comparison between karyotyping-FISH-reverse transcription PCR and RNA-sequencing-fusion gene identification programs in the detection of KAT6A-CREBBP in acute myeloid leukemia."],"pmcid":["PMC4010518"],"pubmed_authors":["Panagopoulos I","Gorunova L","Torkildsen S","Tierens A","Heim S","Tjonnfjord GE"],"additional_accession":[]},"is_claimable":false,"name":"Comparison between karyotyping-FISH-reverse transcription PCR and RNA-sequencing-fusion gene identification programs in the detection of KAT6A-CREBBP in acute myeloid leukemia.","description":"An acute myeloid leukemia was suspected of having a t(8;16)(p11;p13) resulting in a KAT6A-CREBBP fusion because the bone marrow was packed with monoblasts showing marked erythrophagocytosis. The diagnostic karyotype was 46,XY,add(1)(p13),t(8;21)(p11;q22),der(16)t(1;16)(p13;p13)[9]/46,XY[1]; thus, no direct confirmation of the suspicion could be given although both 8p11 and 16p13 seemed to be rearranged. The leukemic cells were examined in two ways to find out whether a cryptic KAT6A-CREBBP was present. The first was the \"conventional\" approach: G-banding was followed by fluorescence in situ hybridization (FISH) and reverse transcription PCR (RT-PCR). The second was RNA-Seq followed by data analysis using FusionMap and FusionFinder programs with special emphasis on candidates located in the","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014","modification":"2026-04-07T19:37:01.401Z","creation":"2019-03-26T23:24:38Z"},"accession":"S-EPMC4010518","cross_references":{"pubmed":["24798186"],"doi":["10.1371/journal.pone.0096570"]}}