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

• Published in: Haematologica (Roma) Vol. 93; no. 9; pp. 1398 - 1401
• Main Authors: Gorello, Paolo, Brandimarte, Lucia, La Starza, Roberta, Pierini, Valentina, Bury, Loredana, Rosati, Roberto, Martelli, Massimo F, Vandenberghe, Peter, Wlodarska, Iwona, Mecucci, Cristina
• Format: Journal Article
• Language: English
• Published: Pavia Haematologica 01.09.2008; Ferrata Storti Foundation
• Subjects: Adult; Amino Acid Sequence; Base Sequence; Biological and medical sciences; Chromosome aberrations; Chromosomes, Human, Pair 3 - genetics; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence; Leukemia, Myeloid, Acute - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical genetics; Medical sciences; Molecular Sequence Data; Nuclear Pore Complex Proteins - genetics; Recombinant Fusion Proteins - genetics; Transcription, Genetic - genetics; Chromosomal aberration; Acute myelogenous leukemia; Hematology; Malignant hemopathy; acute myeloid leukemia; Cytogenetics; Abnormal chromosome; NUP98; Abnormal chromosome C11; translocation partners; Hybrid gene; Cancer; Chromosome translocation
• ISSN: 0390-6078; 1592-8721
• DOI: 10.3324/haematol.12945

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.