RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome

Virchows Arch. 2009 Mar;454(3):311-6. doi: 10.1007/s00428-009-0732-z. Epub 2009 Jan 28.


In this study, we report the molecular cytogenetic characterization of an acute myeloid leukemia with a der(Y)t(Y;1)(q12;q25) in bone marrow cells in a child with Klinefelter syndrome. Conventional cytogenetics demonstrated the unbalanced translocation, i.e., a trisomic 1q25-qter juxtaposed to Yq12 replaced the terminal segment of chromosome Y was acquired and present only on bone marrow cells. Fluorescence in situ hybridization showed that the breakpoint at 1q25 disrupted RABGAP1L, a strongly expressed gene in CFU-GEMM, erythroid cells, and megakaryocytes, while the Yq12 breakpoint fell within the heterochromatic region. As der(Y)t(Y;1)(q12;q25) was an isolated cytogenetic change, RABGAP1L rearrangement as well as gene(s) dosage effects correlated to 1q25-qter trisomy, and Yq12-qter loss may make a major contribution to leukemogenesis and/or disease progression.

Publication types

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

MeSH terms

  • Chromosome Aberrations
  • Chromosomes, Human, Y / genetics*
  • GTPase-Activating Proteins / genetics*
  • Gene Rearrangement
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Klinefelter Syndrome / complications*
  • Klinefelter Syndrome / genetics*
  • Leukemia, Myeloid, Acute / complications*
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Nerve Tissue Proteins / genetics*


  • GTPase-Activating Proteins
  • Nerve Tissue Proteins
  • RABGAP1L protein, human