title: Cytogenetics in multiple myeloma patients progressing into extramedullary disease.
abstract: BACKGROUND
  Extramedullary disease in multiple myeloma patients is an uncommon event occurring either at the time of diagnosis, or during disease progression/relapse. This manifestation is frequently associated with poor outcome and resistance to treatment. We evaluated chromosomal alterations of plasma cells of multiple myeloma patients with extramedullary relapse, either in the bone marrow (BM) or at extramedullary sites, and in previous BM collection by interphase fluorescence in situ hybridization.
  
  
  METHODS
  Thirty-one patients [25 BM plasma cells (BMPCs), 18 extramedullary tumor plasma cells], of which 12 had paired samples of BM and extramedullary plasma cells and 14 had previous collection of BM, were investigated for the presence of chromosomal aberrations (CHAs): del(17)(p13), del(13)(q14), 14q32 disruption, t(4;14)(p16;q32), t(14;16)(q32;q23), gain(1)(q21), and hyperdiploidy status.
  
  
  RESULTS
  Overall, in unrelated samples, t(4;14) was more prevalent in extramedullary plasma cells, and hyperdiploidy was more frequent in BMPCs. In paired samples, there was a higher frequency of del(13)(q14) and 14q32 disruption in BMPCs. Frequency of all studied CHAs was higher in BMPCs of extramedullary patients than in their previous sample collection.
  
  
  CONCLUSIONS
  These data show that plasma cells harbor more aberrations during their transformation into extramedullary form.
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
authors.forename: Lenka
authors.initials: L
authors.lastname: Besse
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.|Department of Clinical Hematology, University Hospital Brno, Brno, Czech Republic.
authors.forename: Lenka
authors.initials: L
authors.lastname: Sedlarikova
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
authors.forename: Henrieta
authors.initials: H
authors.lastname: Greslikova
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
authors.forename: Renata
authors.initials: R
authors.lastname: Kupska
authors.affiliation: Department of Clinical Hematology, University Hospital Brno, Brno, Czech Republic.
authors.forename: Martina
authors.initials: M
authors.lastname: Almasi
authors.affiliation: Department of Clinical Hematology, University Hospital Brno, Brno, Czech Republic.
authors.forename: Miroslav
authors.initials: M
authors.lastname: Penka
authors.affiliation: Department of Hematooncology, Faculty of Medicine, University Hospital Ostrava, University of Ostrava, Ostrava, Czech Republic.
authors.forename: Tomas
authors.initials: T
authors.lastname: Jelinek
authors.affiliation: Department of Internal Medicine - Hematooncology, University Hospital Brno, Brno, Czech Republic.
authors.forename: Ludek
authors.initials: L
authors.lastname: Pour
authors.affiliation: Department of Internal Medicine - Hematooncology, University Hospital Brno, Brno, Czech Republic.
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Adam
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
authors.forename: Petr
authors.initials: P
authors.lastname: Kuglik
authors.affiliation: Department of Internal Medicine - Hematooncology, University Hospital Brno, Brno, Czech Republic.
authors.forename: Marta
authors.initials: M
authors.lastname: Krejci
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.|Department of Clinical Hematology, University Hospital Brno, Brno, Czech Republic.|Department of Hematooncology, Faculty of Medicine, University Hospital Ostrava, University of Ostrava, Ostrava, Czech Republic.
authors.forename: Roman
authors.initials: R
authors.lastname: Hajek
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.|Department of Clinical Hematology, University Hospital Brno, Brno, Czech Republic.
authors.forename: Sabina
authors.initials: S
authors.lastname: Sevcikova
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D018450:Disease Progression; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D009362:Neoplasm Metastasis; D009367:Neoplasm Staging; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor
keywords: cytogenetics; extramedullary relapse; multiple myeloma