title: Molecular Cytogenetic Analysis of Chromosome 8 Aberrations in Patients With Multiple Myeloma Examined in 2 Different Stages, at Diagnosis and at Progression/Relapse.
abstract: The genome of multiple myeloma (MM) clonal plasma cells is characterized by genetic changes of prognostic importance. Disease progression is accompanied by a number of secondary chromosomal aberrations including chromosome 8. We focused on the detection of chromosome 8 aberrations in patients with MM who were examined at 2 different phases: diagnosis and progression/relapse.
  
  
  
  A total of 62 patients with MM were examined at the time of diagnosis and at relapse/progression. The median age was 64 years (range, 39-78 years); the study included 29 males and 33 females. We analyzed bone marrow samples for detecting aberrations on chromosome 8 by the fluorescence immunophenotyping and interphase cytogenetics as a tool for the investigation of neoplasms (FICTION) and fluorescence in situ hybridization methods with specific probes.
  
  
  
  Chromosome 8 aberrations were detected in 24 (38.7%) patients at diagnosis and in 29 (46.8%) patients at progression/relapse. Only 5 (8%) patients developed additional chromosome 8 changes at progression/relapse. The aberrations were heterogeneous, involving numerical and structural changes of the MYC gene. Aberrations of the short arm of chromosome 8, involving the genes TRAIL-R1/-R2, were less frequent (4 of 62 patients, 6.4%). All aberrations of chromosome 8 were accompanied with additional changes and with an advanced clinical phase of the disease. This finding significantly influenced the overall survival of patients.
  
  
  
  In the current study, chromosome 8 aberrations were highly heterogeneous, were presented at diagnosis in patients with advanced clinical stage, and were associated with worse overall survival. We have not confirmed the increase of frequency aberration of chromosome 8 in disease progression. The findings demonstrate the importance of fluorescence in situ hybridization examination of chromosome 8 in newly diagnosed patients with MM.
authors.affiliation: Department of Hemato-oncology, Palacky University Hospital, Olomouc, Czech Republic.
authors.forename: Miroslava
authors.initials: M
authors.lastname: Mlynarcikova
authors.affiliation: Department of Hemato-oncology, Palacky University Hospital, Olomouc, Czech Republic.
authors.forename: Jana
authors.initials: J
authors.lastname: Balcarkova
authors.affiliation: Department of Hemato-oncology, Palacky University Hospital, Olomouc, Czech Republic.
authors.forename: Pavla
authors.initials: P
authors.lastname: Mickova
authors.affiliation: Department of Hemato-oncology, Palacky University Hospital, Olomouc, Czech Republic.
authors.forename: Vlastimil
authors.initials: V
authors.lastname: Scudla
authors.affiliation: Department of Hemato-oncology, Palacky University Hospital, Olomouc, Czech Republic.
authors.forename: Tomas
authors.initials: T
authors.lastname: Pika
authors.affiliation: Department of Hemato-oncology, Palacky University Hospital, Olomouc, Czech Republic.
authors.forename: Jaroslav
authors.initials: J
authors.lastname: Bacovsky
authors.affiliation: Department of Hemato-oncology, Palacky University Hospital, Olomouc, Czech Republic.
authors.forename: Jiri
authors.initials: J
authors.lastname: Minarik
authors.affiliation: Institute of Biostatistics and Analysis, Masaryk University, Brno, Czech Republic.
authors.forename: Eva
authors.initials: E
authors.lastname: Janousova
authors.affiliation: Department of Hemato-oncology, Palacky University Hospital, Olomouc, Czech Republic. Electronic address: Marie.Jarosova@fnol.cz.
authors.forename: Marie
authors.initials: M
authors.lastname: Jarosova
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8; D060965:Clonal Evolution; D020732:Cytogenetic Analysis; D018450:Disease Progression; D005260:Female; D016259:Genes, myc; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D009367:Neoplasm Staging; D012008:Recurrence
chemical_list: D014408:Biomarkers, Tumor
keywords: FICTION; MYC; TRAIL-R1; TRAIL-R2; genetic changes