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Chromosome abnormalities of 6q are not frequently observed in myeloid disorders. In this article, we report the incidence of these chromosome changes in childhood myeloid leukemia as 2%-4% based on the cytogenetic database of a single institution. We applied fluorescence in situ hybridization (FISH) to characterize precisely the types of 6q abnormalities in seven patients (six with acute myeloid leukemia and one with myelodysplastic syndrome). They carried various translocations involving different breakpoints in 6q, as confirmed by FISH using a whole-chromosome-6 paint. Four cases were reported as t(6;11), although the breakpoints varied. Among these, we identified a novel translocation, t(6;11)(q24.1;p15.5), in a patient with acute megakaryoblastic leukemia. Molecular cytogenetic studies using the PAC clone RP5-1173K1 localized the genomic breakpoint on chromosome 11 to within the NUP98 gene. The breakpoint on chromosome 6 was narrowed down to a 500-kb region between BAC clones RP11-721P14 and RP11-39H10. Reverse-transcription PCR was performed using a forward primer specific for NUP98 and a reverse primer for the candidate gene in the 500-kb interval in 6q. This experiment resulted in the identification of a new fusion between NUP98 and C6orf80. Further studies will aim to fully characterize C6orf80 and will elucidate the role of this new NUP98 fusion in myeloid leukemia.

Original publication

DOI

10.1002/gcc.20233

Type

Journal article

Journal

Genes Chromosomes Cancer

Publication Date

11/2005

Volume

44

Pages

225 - 232

Keywords

Acute Disease, Adolescent, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Chromosome Breakage, Chromosomes, Artificial, Bacterial, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 6, Cytogenetic Analysis, DNA, Neoplasm, Humans, In Situ Hybridization, Fluorescence, Infant, Leukemia, Myeloid, Molecular Sequence Data, Nuclear Pore Complex Proteins, Oncogene Proteins, Fusion, RNA, Neoplasm, Reverse Transcriptase Polymerase Chain Reaction, Translocation, Genetic