title: Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH.
abstract: BACKGROUND
  Plasma cell leukaemia is a rare disorder that usually carries an aggressive course with a rapidly fatal outcome. A variety of chromosomal abnormalities have been reported in plasma cell leukaemia but the clinical significance of an abnormal karyotype is still unclear.
  
  
  METHODS
  We have applied the molecular cytogenetic techniques multicolour spectral karyotyping and microdissection in combination with fluorescence in situ hybridization on metaphases from a patient with primary plasma cell leukaemia and a fatal outcome.
  
  
  CONCLUSIONS
  The chromosome analysis showed severe hypodiploidy and 12 marker chromosomes. Identification of the structural rearrangements was not possible using routine cytogenetic methods. Utilizing the methods above, all marker chromosomes could be identified in detail and the karyotype was shown to be very complex. Forty-three breakpoints were found, and 25 could be identified at the band level, among others 14q32 where the immunoglobulin heavy chain locus is situated. Thus, these techniques provide the opportunity to resolve very complex chromosomal changes in a way that has not been previously possible and will consequently be of great importance in the search for hot spots that may harbour new cancer genes.
authors.affiliation: Department of Molecular Medicine, Karolinska Institutet at Karolinska Hospital, Stockholm, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Nordgren
authors.forename: F
authors.initials: F
authors.lastname: Farnebo
authors.forename: M
authors.initials: M
authors.lastname: Björkholm
authors.forename: S
authors.initials: S
authors.lastname: Sahlén
authors.forename: A
authors.initials: A
authors.lastname: Porwit-MacDonald
authors.forename: E
authors.initials: E
authors.lastname: Osby
authors.forename: S
authors.initials: S
authors.lastname: Kytölä
authors.forename: C
authors.initials: C
authors.lastname: Larsson
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: E
authors.initials: E
authors.lastname: Blennow
mesh_terms: D000328:Adult; D001854:Bone Marrow Cells / Q000473:pathology; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002874:Chromosome Mapping; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007952:Leukemia, Plasma Cell / Q000235:genetics* / Q000473:pathology; D008297:Male