Detection of t(3;5) and NPM1/MLF1 rearrangement in an elderly patient with acute myeloid leukemia: clinical and laboratory study with review of the literature

Cancer Genet Cytogenet. 2010 Jun;199(2):101-9. doi: 10.1016/j.cancergencyto.2010.02.009.

Abstract

We present a novel case of acute myeloid leukemia with an NPM1/MLF1 rearrangement in a 78-year-old Korean woman. The bone marrow chromosome study showed a complex karyotype: 46,XX,t(2;13) (q13;q32),der(3)t(3;5)(q25.1;q34),der(5)del(5)(?q31q34)t(3;5),inv(9)(p11q13)c,del(20)(q11.2)[13]/49,idem,+5,+8,+der(13)t(2;13)[7]. Multiplex gene rearrangement testing, cloning, and sequencing analyses revealed an NPM1/MLF1 fusion rearrangement between exon 6 of NPM1 (ENSG00000181163) and exon 2 of MLF1 (ENSG00000178053). Although t(3;5)(q25.1;q34) or the NPM1/MLF1 rearrangement has been reported mostly as a sole karyotypic abnormality in younger patients, it should also be considered in elderly patients with complex chromosomal abnormalities in acute myeloid leukemia or myelodysplastic syndrome.

Publication types

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

MeSH terms

  • Aged
  • Cell Cycle Proteins
  • Chromosomes, Human, Pair 3 / genetics*
  • Chromosomes, Human, Pair 5 / genetics*
  • DNA-Binding Proteins
  • Female
  • Gene Rearrangement*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology
  • Nuclear Proteins / genetics*
  • Nucleophosmin
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • Translocation, Genetic / genetics*

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • MLF1 protein, human
  • NPM1 protein, human
  • Nuclear Proteins
  • Proteins
  • Nucleophosmin