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. 2014 May;99(5):64-6.
doi: 10.3324/haematol.2013.101725. Epub 2014 Feb 28.

DDX3X-MLLT10 fusion in adults with NOTCH1 positive T-cell acute lymphoblastic leukemia

Lucia Brandimarte  1 , Roberta La Starza, Valentina Gianfelici, Gianluca Barba, Valentina Pierini, Danika Di Giacomo, Jan Cools, Loredana Elia, Antonella Vitale, Luigiana Luciano, Antonella Bardi, Sabina Chiaretti, Caterina Matteucci, Giorgina Specchia, Cristina Mecucci
Affiliations

DDX3X-MLLT10 fusion in adults with NOTCH1 positive T-cell acute lymphoblastic leukemia

Lucia Brandimarte et al. Haematologica. 2014 May.
No abstract available

Keywords: DDX3X-MLLT10; NOTCH1 positive; T-cell acute lymphoblastic leukemia; fusion.

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Figures

Figure 1.
Figure 1.
Cytogenetic and molecular characterization of DDX3X-MLLT10 fusions. (A) Double color double fusion FISH assay for DDX3X and MLLT10. (B) FISH showed 2 fused signals in Patients 1, 2 and 3 indicating a balanced translocation (arrows). (C) FISH showed one fused signal in patient 4 indicating an unbalanced translocation (arrow). (D) Schematic representation of DDX3X and MLLT10 breakpoints in the 4 DDX3X-MLLT10 positive cases (arrows). Nucleotide numbers refer to GenBank accession: NM_001356.3 for DDX3X and NM_004641.3 for MLLT10. (E) Putative fusion protein structure. At N terminal DDX3X retained a NES domain in all. Three patients retained the entire EIF4E interacting motif and 1 only half. At C terminal at least 1 NLS, the AT-hook and the OM-LZ domain were retained in all. Pt: patient; Pts: patients; nt.: nucleotide; aa: amino acid; NES: Nuclear Exporting Signal; NLS: Nuclear Localization Signal; LAP/PHD: Leukemia Associated Protein / Plant Homeo Domain; Ext-LAP: Extended LAP; OM-LZ: Octapeptide Motif-Leucine Zipper; Gln: Glutamine.
See this image and copyright information in PMC

References

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