NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15)

Author:

Rosati Roberto1,La Starza Roberta1,Veronese Angelo1,Aventin Ana1,Schwienbacher Christine1,Vallespi Teresa1,Negrini Massimo1,Martelli Massimo F.1,Mecucci Cristina1

Affiliation:

1. From the Hematology and Bone Marrow Transplantation Unit, University of Perugia; the International Cancer Center, Laboratory of Molecular Biology, Rovigo; the Department of Experimental and Diagnostic Medicine and Interdepartment Center for Cancer Research, University of Ferrara, Italy; the Department of Hematology, Sant Pau University Hospital, Barcelona; and the Department of Hematology, Vall d'Hebron Hospital, Barcelona, Spain.

Abstract

Fusion between the NUP98 and NSD3genes in a patient with acute myeloid leukemia associated with t(8;11)(p11.2;p15), is reported for the first time. The t(8;11)(p11.2;p15) was identified by classical cytogenetics. Fluorescence in situ hybridization (FISH) analysis revealed a split signal with a mix of BAC 118H17 and 290A12, indicating the translocation disrupted NUP98. FISH restriction at 8p11-12 showed a split of BAC 350N15. Molecular investigations into candidate genes in this BAC showed the NUP98 fusion partner at 8p11.2 was the NSD3 gene. To date the NSD3 gene has never been implicated in hematologic malignancies.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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