title: Genetic aberrations in multiple myeloma characterized by cIg-FISH: a Brazilian context.
abstract: Genetic abnormalities are critical prognostic factors for patients diagnosed with multiple myeloma (MM). This retrospective, multicenter study aimed to contribute with the genetic and clinical characterization of MM patients in a country with continental dimensions such as Brazil. Genetic abnormalities were assessed by cIg-fluorescent in situ hybridization (cIg-FISH) in a series of 152 MM patients (median age 55 years, 58.5% men). Overall, genetic abnormalities were detected in 52.7% (80/152) of patients. A 14q32 rearrangement was detected in 33.5% (n=51), including t(11;14), t(4;14) and t(14;16) in 18.4, 14.1, and 1% of cases, respectively. del(13q) was identified in 42.7% (n=65) of patients, of whom 49.2% (32/65) presented a concomitant 14q32 rearrangement. del(17p) had a frequency of 5.2% (n=8). del(13q) was associated with high plasma cell burden (≥50%, P=0.02), and del(17p) with advanced ISS stages (P=0.05) and extramedullary disease (P=0.03). t(4;14) was associated with advanced Durie-Salmon stages (P=0.008), renal insufficiency (P=0.01) and was more common in patients over 60 years old. This study reports similar frequencies of genetic abnormalities to most series worldwide, whereas the t(14;16) and del(17p), two high risk factors for newly diagnosed patients, exhibited lower frequencies. Our results expand the knowledge on the molecular features of MM in Brazil, a country where innovative therapies that could overcome a poor prognosis for some genetic abnormalities are not always available.
authors.affiliation: Centro de Transplante de Medula =ssea, Instituto Nacional de Câncer, RJ, Rio de Janeiro, Brasil.
authors.forename: P
authors.initials: P
authors.lastname: Segges
authors.affiliation: Department of Hematology and Oncology, Mayo Clinic in Arizona, Scottsdale, AZ, USA.
authors.forename: E
authors.initials: E
authors.lastname: Braggio
authors.affiliation: Centro de Transplante de Medula =ssea, Instituto Nacional de Câncer, RJ, Rio de Janeiro, Brasil.
authors.forename: C
authors.initials: C
authors.lastname: Minnicelli
authors.affiliation: Centro de Transplante de Medula =ssea, Instituto Nacional de Câncer, RJ, Rio de Janeiro, Brasil.
authors.forename: R
authors.initials: R
authors.lastname: Hassan
authors.affiliation: Centro de Transplante de Medula =ssea, Instituto Nacional de Câncer, RJ, Rio de Janeiro, Brasil.
authors.forename: I R
authors.initials: IR
authors.lastname: Zalcberg
authors.affiliation: Departamento de Medicina Interna, Serviço de Hematologia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
authors.forename: A
authors.initials: A
authors.lastname: Maiolino
mesh_terms: D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics*; D015345:Oligonucleotide Probes / Q000235:genetics; D010950:Plasma Cells / Q000473:pathology*; D011379:Prognosis; D012189:Retrospective Studies
chemical_list: D015345:Oligonucleotide Probes