A complex karyotype, including a three-way translocation generating a NUP98-HOXD13 transcript, in an infant with acute myeloid leukemia

Cancer Genet Cytogenet. 2007 Jul 15;176(2):137-43. doi: 10.1016/j.cancergencyto.2007.04.005.

Abstract

We report the case of an infant with acute myeloblastic leukemia who had the abnormal karyotype 46,XX,t(2;11;9)(q31;p15;q22),t(6;11;15)(q21;q23;q22),t(8;10)(q13;q22). At relapse, a different three-way translocation emerged. Fluorescence in situ hybridization and a reverse transcription-polymerase chain reaction assay detected the NUP98-HOXD13 fusion gene in bone marrow cells of the patient at diagnosis and at relapse. Sequence analysis showed that exon 12 of NUP98 was fused in-frame with exon 2 of HOXD13. The patient had neither a rearrangement of the MLL gene nor aberrations for FLT3, KIT, NRAS, KRAS, or PTPN11. The NUP98-HOXD13 fusion transcript created by t(2;11;9)(q31;p15;q22) may play an important role in the leukemogenesis in this case.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 10
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 6
  • Chromosomes, Human, Pair 8
  • Chromosomes, Human, Pair 9
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Molecular Sequence Data
  • Nuclear Pore Complex Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Translocation, Genetic*

Substances

  • Homeodomain Proteins
  • NUP98-HOXA13 fusion protein, human
  • Nuclear Pore Complex Proteins
  • Oncogene Proteins, Fusion