title: Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient.
abstract: BACKGROUND
  In acute myeloid leukemia (AML), the MDS1 and EVI1 complex locus - MECOM, also known as the ecotropic virus integration site 1 - EVI1, located in band 3q26, can be rearranged with a variety of partner chromosomes and partner genes. Here we report on a 57-year-old female with AML who presented with the rare translocation t(3;10)(q26;q21) involving the MECOM gene. Our aim was to identify the fusion partner on chromosome 10q21 and to characterize the precise nucleotide sequence of the chromosomal breakpoint.
  
  
  METHODS
  Cytogenetic and molecular-cytogenetic techniques, chromosome microdissection, next generation sequencing, long-range PCR and direct Sanger sequencing were used to map the chromosomal translocation.
  
  
  RESULTS
  Using a combination of cytogenetic and molecular approaches, we mapped the t(3;10)(q26;q21) to the single nucleotide level, revealing a fusion of the MECOM gene (3q26.2) and C10orf107 (10q21.2).
  
  
  CONCLUSIONS
  The approach described here opens up new possibilities in characterizing acquired as well as congenital chromosomal aberrations. In addition, DNA sequences of chromosomal breakpoints may be a useful tool for unique molecular minimal residual disease target identification in acute leukemia patients.
authors: Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
authors: Tereza
authors: T
authors: Jancuskova
authors: Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
authors: Radek
authors: R
authors: Plachy
authors: Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
authors: Lucie
authors: L
authors: Zemankova
authors: Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
authors: David Warren
authors: DW
authors: Hardekopf
authors: Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
authors: Jiri
authors: J
authors: Stika
authors: Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
authors: Lenka
authors: L
authors: Zejskova
authors: Department I of Internal Medicine, University at Cologne, Kerpener Str., Cologne, Germany.
authors: Inka
authors: I
authors: Praulich
authors: Department I of Internal Medicine, University at Cologne, Kerpener Str., Cologne, Germany.
authors: Karl-Anton
authors: KA
authors: Kreuzer
authors: Oncological Therapy Center, Buchforststr., Cologne, Germany.
authors: Achim
authors: A
authors: Rothe
authors: Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, Germany.
authors: Moneeb Ak
authors: MA
authors: Othman
authors: Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, Germany.
authors: Nadezda
authors: N
authors: Kosyakova
authors: Laboratory for Molecular Diagnostics, synlab genetics s.r.o., Evropska 176/16, Prague 6 16000, Czech Republic.
authors: Sona
authors: S
authors: Pekova
keywords: AML; Chromosomal microdissection; MECOM; Molecular marker; Next-generation sequencing