Disease(s): Acute Myeloid Leukemia
Probes: NUP98 (11p15.4)
Fusions of the nucleoporin 98 (NUP98) gene with more than 30 partner genes are noted in a variety of hematologic malignancies including AML, MDS, and T-ALL. Recurring NUP98 fusions, such as NUP98-NSD1, NUP98-JARID1A, and NUP98-HOXA9, have been reported in pediatric and adult cytogenetically normal AML (CN-AML) and some have been associated with poor prognosis. Detection of NUP98 rearrangement may be useful to further classify prognostic risk in AML and guide therapy selection. Screening for NUP98 rearrangement in pediatric AML patients at the time of diagnosis has been suggested. This NUP98 break-apart FISH test is designed to detect NUP98 rearrangements with potentially any known or novel translocation partner. Partner genes are not specifically identified by this test, but both partner genes for these and other fusions can be identified by the Universal Fusion/Expression Profile.
1. Ostronoff F, Othus M, Gerbing RB, et al. NUP98/NSD1 and FLT3/ITD coexpression is more prevalent in younger AML patients and leads to induction failure: a COG and SWOG report. Blood. 2014;124(15):2400-2407.
2. Hollink I, van den Heuvel-Eibrink M, Arentsen-Peters S, et al. NUP98/NSD1 characterizes a novel poor prognostic group in acute myeloid leukemia with a distinct HOX gene expression pattern. Blood. 2017;118(13):3645-3656.
3. Romana SP, Radford-Weiss I, Ben Abdelali R, et al. NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogenetique Hematologique. Leukemia. 2006;20:696-706.
- Bone Marrow Aspirate: 1-2 mL sodium heparin tube. EDTA tube is acceptable.
- Peripheral Blood: 2-5 mL sodium heparin tube. EDTA tube is acceptable.
- Fresh, Unfixed Tissue: Tissue in RPMI.
- Fluids: Equal parts RPMI to specimen volume.
- Paraffin Block or Cut Slides: Not available.
Refrigerate specimen. Do not freeze. Use cold pack for transport, making sure cold pack is not in direct contact with specimen.