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t(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia

¹ IbiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, Hematology, University of Perugia, Perugia, Italy
² Center for Human Genetics, University of Leuven, Leuven, Belgium

Correspondence: Cristina Mecucci, University of Perugia, IBiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, Policlinico Monteluce, via Brunamonti 51, 06122 Perugia, Italy. E-mail:crimecux{at}unipg.it

In a case of acute myeloid leukemia we report molecular cytogenetic findings of a t(3;11)(q12;p15), characterized as a new NUP98 translocation rearranging with LOC348801 at chromosome 3. NUP98 involvement was detected by fluorescence in situ hybridization. 3’-RACE-PCR showed nucleotide 1718 (exon 13) of NUP98 was fused in-frame with nucleotide 1248 (exon 2) of LOC348801. RT-PCR and cloning experiments detected two in-frame spliced NUP98-LOC348801 transcripts and the reciprocal LOC348801-NUP98. A highly specific double-color double-fusion FISH assay reliably detects NUP98-LOC348801.

Key words: acute myeloid leukemia, NUP98, translocation partners.