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Blood, 15 May 2002, Vol. 99, No. 10, pp. 3857-3860
BRIEF REPORT
NUP98 is fused to the NSD3 gene in
acute myeloid leukemia associated with t(8;11)(p11.2;p15)
Roberto Rosati,
Roberta La Starza,
Angelo Veronese,
Ana Aventin,
Christine Schwienbacher,
Teresa Vallespi,
Massimo Negrini,
Massimo F. Martelli, and
Cristina Mecucci
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.
Fusion between the NUP98 and NSD3
genes 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.
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