title: Genome-wide screening of cytogenetic abnormalities in multiple myeloma patients using array-CGH technique: a Czech multicenter experience.
abstract: Characteristic recurrent copy number aberrations (CNAs) play a key role in multiple myeloma (MM) pathogenesis and have important prognostic significance for MM patients. Array-based comparative genomic hybridization (aCGH) provides a powerful tool for genome-wide classification of CNAs and thus should be implemented into MM routine diagnostics. We demonstrate the possibility of effective utilization of oligonucleotide-based aCGH in 91 MM patients. Chromosomal aberrations associated with effect on the prognosis of MM were initially evaluated by I-FISH and were found in 93.4% (85/91). Incidence of hyperdiploidy was 49.5% (45/91); del(13)(q14) was detected in 57.1% (52/91); gain(1)(q21) occurred in 58.2% (53/91); del(17)(p13) was observed in 15.4% (14/91); and t(4;14)(p16;q32) was found in 18.6% (16/86). Genome-wide screening using Agilent 44K aCGH microarrays revealed copy number alterations in 100% (91/91). Most common deletions were found at 13q (58.9%), 1p (39.6%), and 8p (31.1%), whereas gain of whole 1q was the most often duplicated region (50.6%). Furthermore, frequent homozygous deletions of genes playing important role in myeloma biology such as TRAF3, BIRC1/BIRC2, RB1, or CDKN2C were observed. Taken together, we demonstrated the utilization of aCGH technique in clinical diagnostics as powerful tool for identification of unbalanced genomic abnormalities with prognostic significance for MM patients.
authors.affiliation: Department of Experimental Biology, Faculty of Science, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic ; Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Jan
authors.identifier: 0000-0002-3770-1754
authors.initials: J
authors.lastname: Smetana
authors.affiliation: Department of Experimental Biology, Faculty of Science, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic ; Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Jan
authors.initials: J
authors.lastname: Frohlich
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Romana
authors.identifier: 0000-0001-7449-7679
authors.initials: R
authors.lastname: Zaoralova
authors.affiliation: Department of Experimental Biology, Faculty of Science, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Vladimira
authors.initials: V
authors.lastname: Vallova
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University Brno, Bohunice, 62500 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, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Renata
authors.initials: R
authors.lastname: Kupska
authors.affiliation: Department of Experimental Biology, Faculty of Science, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic ; Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Pavel
authors.initials: P
authors.lastname: Nemec
authors.affiliation: Department of Experimental Biology, Faculty of Science, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic ; Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Aneta
authors.initials: A
authors.lastname: Mikulasova
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic ; Department of Internal Hematooncology, University Hospital Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Martina
authors.initials: M
authors.lastname: Almasi
authors.affiliation: Department of Clinical Hematology, University Hospital Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Ludek
authors.initials: L
authors.lastname: Pour
authors.affiliation: Department of Clinical Hematology, University Hospital Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Adam
authors.affiliation: Department of Clinical Hematology, University Hospital Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Viera
authors.initials: V
authors.lastname: Sandecka
authors.affiliation: Faculty of Medicine, University of Ostrava and University Hospital Ostrava, Poruba, 70852 Ostrava, Czech Republic.
authors.forename: Lenka
authors.initials: L
authors.lastname: Zahradová
authors.affiliation: Babak Myeloma Group, Department of Pathological Physiology, Faculty of Medicine, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic ; Department of Internal Hematooncology, University Hospital Brno, Bohunice, 62500 Brno, Czech Republic ; Faculty of Medicine, University of Ostrava and University Hospital Ostrava, Poruba, 70852 Ostrava, Czech Republic.
authors.forename: Roman
authors.initials: R
authors.lastname: Hajek
authors.affiliation: Department of Experimental Biology, Faculty of Science, Masaryk University Brno, Bohunice, 62500 Brno, Czech Republic.
authors.forename: Petr
authors.initials: P
authors.lastname: Kuglik
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization / Q000379:methods*; D018153:Czech Republic; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000175:diagnosis / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D011379:Prognosis
chemical_list: D009363:Neoplasm Proteins