NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15).
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.
Rosati
Roberto
R
Hematology and Bone Marrow Transplantation Unit, University of Perugia, Italy.
La Starza
Roberta
R
Veronese
Angelo
A
Aventin
Ana
A
Schwienbacher
Christine
C
Vallespi
Teresa
T
Negrini
Massimo
M
Martelli
Massimo F
MF
Mecucci
Cristina
C
D000208:Acute Disease; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11; D002898:Chromosomes, Human, Pair 8; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012334:RNA, Neoplasm / Q000032:analysis; D014178:Translocation, Genetic
D002352:Carrier Proteins; D028861:Nuclear Pore Complex Proteins; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm; C093350:nuclear pore complex protein 98; D011495:Histone-Lysine N-Methyltransferase; C432968:NSD3 protein, human