t(9;11)(p22;p15) in acute myeloid leukemia results in a fusion between NUP98 and the gene encoding transcriptional coactivators p52 and p75-lens epithelium-derived growth factor (LEDGF)

• Published in: Cancer research (Chicago, Ill.) Vol. 60; no. 22; pp. 6227 - 6229
• Main Authors: AHUJA, Harish G, JIANMING HONG, APLAN, Peter D, TCHEUREKDJIAN, Lucene, FORMAN, Stephen J, SLOVAK, Marilyn L
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA American Association for Cancer Research 15.11.2000
• Subjects: Adaptor Proteins, Signal Transducing; Amino Acid Sequence; Artificial Gene Fusion; Base Sequence; Biological and medical sciences; chromosome 11; chromosome 9; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 9; Growth Substances - genetics; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence; Intercellular Signaling Peptides and Proteins; LEDGF gene; lens epithelium-derived growth factor; Leukemia, Myeloid, Acute - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Membrane Proteins - genetics; Middle Aged; Molecular Sequence Data; Nuclear Pore Complex Proteins; Nuclear Proteins - genetics; NUP98 gene; p52 protein; p75 protein; Recombinant Fusion Proteins - genetics; Repetitive Sequences, Nucleic Acid; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger - genetics; Trans-Activators - genetics; Transcription Factors; Translocation, Genetic; Chromosomal aberration; Human; Gene product; Acute; Malignant hemopathy; In vitro; Case study; Chromosome 9; Chromosome 11; Cytogenetics; Bone marrow; Abnormal chromosome; Fusion protein; Growth factor; Acute myelocytic leukemia; Chromosome translocation
• ISSN: 0008-5472; 1538-7445

A t(9;11)(p22;p15) chromosomal translocation was identified in an adult patient with de novo acute myelogenous leukemia. Fluorescence in situ hybridization and Southern blot analysis mapped the 11p15 break-point to the NUP98 gene. Using 3' rapid amplification of cDNA ends, we have identified a chimeric mRNA that fused the NUP98 FXFG repeats in frame to the COOH-terminal portion of the gene encoding the transcriptional coactivators p52 and p75, also known as lens epithelium-derived growth factor (LEDGF). As expected, both NUP98-p52 and NUP98-p75 (LEDGF) chimeric mRNAs were detected by reverse transcription-PCR; however, the reciprocal p52/p75 (LEDGF)-NUP98 fusion mRNA was not detected. Our results demonstrate that this is the most 5' NUP98 fusion reported and reveal a previously unrecognized genetic target, the gene encoding p52/p75 (LEDGF).