Cryptic translocation t(5;11)(q35;p15.5) with involvement of the NSD1 and NUP98 genes without 5q deletion in childhood acute myeloid leukemia.
The cryptic translocation t(5;11)(q35;p15.5), which creates a NSD1-NUP98 fusion gene, has been associated with a deletion of the long arm of chromosome 5, del(5q), in pediatric acute myeloid leukemia (AML) patients with differentiated phenotype. We screened five pediatric cases of AML with apparently normal karyotype by use of fluorescence in situ hybridization analysis and detected one case with early myeloid phenotype and poor clinical outcome, but with the same breakpoints and no del(5q). These findings point to the involvement of t(5;11) as an early event in leukemogenesis. Screening for this translocation in AML patients with apparently normal karyotype at onset is recommended.
D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000628:therapy; D014178:Translocation, Genetic / Q000235:genetics*
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D028861:Nuclear Pore Complex Proteins; D009687:Nuclear Proteins; C093350:nuclear pore complex protein 98; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human