Chimeric NUP98-NSD1 transcripts from the cryptic t(5;11)(q35.2;p15.4) in adult de novo acute myeloid leukemia

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Kivioja , J , Lopez Marti , J M , Kumar , A , Kontro , M , Edgren , H , Parsons , A , Lundan , T , Wolf , M , Porkka , K & Heckman , C 2018 , ' Chimeric NUP98-NSD1 transcripts from the cryptic t(5;11)(q35.2;p15.4) in adult de novo acute myeloid leukemia ' , Leukemia & lymphoma , vol. 59 , no. 3 , pp. 725-732 . https://doi.org/10.1080/10428194.2017.1357174

Title: Chimeric NUP98-NSD1 transcripts from the cryptic t(5;11)(q35.2;p15.4) in adult de novo acute myeloid leukemia
Author: Kivioja, Jarno; Lopez Marti, Jesus M.; Kumar, Ashwini; Kontro, Mika; Edgren, Henrik; Parsons, Alun; Lundan, Tuija; Wolf, Maija; Porkka, Kimmo; Heckman, Caroline
Contributor: University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Clinicum
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Clinicum
University of Helsinki, Institute for Molecular Medicine Finland
Date: 2018
Language: eng
Number of pages: 8
Belongs to series: Leukemia & lymphoma
ISSN: 1042-8194
URI: http://hdl.handle.net/10138/232181
Abstract: The t(5;11)(q35;p15.4) is a clinically significant marker of poor prognosis in acute myeloid leukemia (AML), which is difficult to detect due to sub-telomeric localization of the breakpoints. To facilitate the detection of this rearrangement, we studied NUP98-NSD1 transcript variants in patients with the t(5;11) using paired-end RNA sequencing and standard molecular biology techniques. We discovered three NUP98-NSD1 transcripts with two fusion junctions (NUP98 exon 11-12/NSD1 exon 6), alternative 5' donor site in NUP98 exon 7, and NSD1 exon 7 skipping. Two of the transcripts were in-frame and occurred in all t(5;11) samples (N=5). The exonic splicing events were present in all samples (N=23) regardless of the NUP98-NSD1 suggesting that these novel splice events are unassociated with t(5;11). In conclusion, we provide evidence of two different NUP98-NSD1 fusion transcripts in adult AML, which result in functional proteins and represent suitable molecular entities for monitoring t(5;11) AML patients.
Subject: 3122 Cancers
NUP98
NSD1
11p15.5 translocation
acute myeloid leukemia
alternative splicing
HEMATOPOIETIC MALIGNANCIES
POOR-PROGNOSIS
GENE
FUSION
IDENTIFICATION
NUP98/NSD1
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