Open Accesst(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia
Author(s) -
Paolo Gorello,
Lucia Brandimarte,
Roberta La Starza,
V. Pierini,
Loredana Bury,
Roberto Rosati,
Maria Paola Martelli,
Peter Vandenberghe,
Iwona Włodarska,
C Mecucci
Publication year - 2008
Publication title -
haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.782
H-Index - 142
eISSN - 1592-8721
pISSN - 0390-6078
DOI - 10.3324/haematol.12945
Subject(s) - myeloid leukemia , chromosomal translocation , microbiology and biotechnology , fluorescence in situ hybridization , exon , fusion transcript , biology , cancer research , leukemia , genetics , chromosome , gene
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.
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