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Genetic aberrations in multiple myeloma characterized by cIg-FISH: a Brazilian context

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 abnormalit...

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Autores principales: Segges, P., Braggio, E., Minnicelli, C., Hassan, R., Zalcberg, I.R., Maiolino, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Brasileira de Divulgação Científica 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830026/
https://www.ncbi.nlm.nih.gov/pubmed/27074166
http://dx.doi.org/10.1590/1414-431X20155034
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author Segges, P.
Braggio, E.
Minnicelli, C.
Hassan, R.
Zalcberg, I.R.
Maiolino, A.
author_facet Segges, P.
Braggio, E.
Minnicelli, C.
Hassan, R.
Zalcberg, I.R.
Maiolino, A.
author_sort Segges, P.
collection PubMed
description 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.
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spelling pubmed-48300262016-04-28 Genetic aberrations in multiple myeloma characterized by cIg-FISH: a Brazilian context Segges, P. Braggio, E. Minnicelli, C. Hassan, R. Zalcberg, I.R. Maiolino, A. Braz J Med Biol Res Clinical Investigation 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. Associação Brasileira de Divulgação Científica 2016-04-08 /pmc/articles/PMC4830026/ /pubmed/27074166 http://dx.doi.org/10.1590/1414-431X20155034 Text en http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Clinical Investigation
Segges, P.
Braggio, E.
Minnicelli, C.
Hassan, R.
Zalcberg, I.R.
Maiolino, A.
Genetic aberrations in multiple myeloma characterized by cIg-FISH: a Brazilian context
title Genetic aberrations in multiple myeloma characterized by cIg-FISH: a Brazilian context
title_full Genetic aberrations in multiple myeloma characterized by cIg-FISH: a Brazilian context
title_fullStr Genetic aberrations in multiple myeloma characterized by cIg-FISH: a Brazilian context
title_full_unstemmed Genetic aberrations in multiple myeloma characterized by cIg-FISH: a Brazilian context
title_short Genetic aberrations in multiple myeloma characterized by cIg-FISH: a Brazilian context
title_sort genetic aberrations in multiple myeloma characterized by cig-fish: a brazilian context
topic Clinical Investigation
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830026/
https://www.ncbi.nlm.nih.gov/pubmed/27074166
http://dx.doi.org/10.1590/1414-431X20155034
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