A Tangle of Genomic Aberrations Drives Multiple Myeloma and Correlates with Clinical Aggressiveness of the Disease: A Comprehensive Review from a Biological Perspective to Clinical Trial Results
Multiple myeloma (MM) is a genetically heterogeneous disease, in which the process of tumorigenesis begins and progresses through the appearance and accumulation of a tangle of genomic aberrations. Several are the mechanisms of DNA damage in MM, varying from single nucleotide substitutions to comple...
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-12-01
|
Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/11/12/1453 |
_version_ | 1797545868767789056 |
---|---|
author | Mariarosaria Sessa Francesco Cavazzini Maurizio Cavallari Gian Matteo Rigolin Antonio Cuneo |
author_facet | Mariarosaria Sessa Francesco Cavazzini Maurizio Cavallari Gian Matteo Rigolin Antonio Cuneo |
author_sort | Mariarosaria Sessa |
collection | DOAJ |
description | Multiple myeloma (MM) is a genetically heterogeneous disease, in which the process of tumorigenesis begins and progresses through the appearance and accumulation of a tangle of genomic aberrations. Several are the mechanisms of DNA damage in MM, varying from single nucleotide substitutions to complex genomic events. The timing of appearance of aberrations is well studied due to the natural history of the disease, that usually progress from pre-malignant to malignant phase. Different kinds of aberrations carry different prognostic significance and have been associated with drug resistance in some studies. Certain genetic events are well known to be associated with prognosis and are incorporated in risk evaluation in MM at diagnosis in the revised International Scoring System (R-ISS). The significance of some other aberrations needs to be further explained. Since now, few phase 3 randomized trials included analysis on patient’s outcomes according to genetic risk, and further studies are needed to obtain useful data to stratify the choice of initial and subsequent treatment in MM. |
first_indexed | 2024-03-10T14:21:07Z |
format | Article |
id | doaj.art-26f5d3e8d0a6441e9cad96257c9be62e |
institution | Directory Open Access Journal |
issn | 2073-4425 |
language | English |
last_indexed | 2024-03-10T14:21:07Z |
publishDate | 2020-12-01 |
publisher | MDPI AG |
record_format | Article |
series | Genes |
spelling | doaj.art-26f5d3e8d0a6441e9cad96257c9be62e2023-11-20T23:19:20ZengMDPI AGGenes2073-44252020-12-011112145310.3390/genes11121453A Tangle of Genomic Aberrations Drives Multiple Myeloma and Correlates with Clinical Aggressiveness of the Disease: A Comprehensive Review from a Biological Perspective to Clinical Trial ResultsMariarosaria Sessa0Francesco Cavazzini1Maurizio Cavallari2Gian Matteo Rigolin3Antonio Cuneo4Hematology Section, Department of Medical Sciences, Azienda Ospedaliero-Universitaria, Arcispedale S.Anna, University of Ferrara, 44121 Ferrara, ItalyHematology Section, Department of Medical Sciences, Azienda Ospedaliero-Universitaria, Arcispedale S.Anna, University of Ferrara, 44121 Ferrara, ItalyHematology Section, Department of Medical Sciences, Azienda Ospedaliero-Universitaria, Arcispedale S.Anna, University of Ferrara, 44121 Ferrara, ItalyHematology Section, Department of Medical Sciences, Azienda Ospedaliero-Universitaria, Arcispedale S.Anna, University of Ferrara, 44121 Ferrara, ItalyHematology Section, Department of Medical Sciences, Azienda Ospedaliero-Universitaria, Arcispedale S.Anna, University of Ferrara, 44121 Ferrara, ItalyMultiple myeloma (MM) is a genetically heterogeneous disease, in which the process of tumorigenesis begins and progresses through the appearance and accumulation of a tangle of genomic aberrations. Several are the mechanisms of DNA damage in MM, varying from single nucleotide substitutions to complex genomic events. The timing of appearance of aberrations is well studied due to the natural history of the disease, that usually progress from pre-malignant to malignant phase. Different kinds of aberrations carry different prognostic significance and have been associated with drug resistance in some studies. Certain genetic events are well known to be associated with prognosis and are incorporated in risk evaluation in MM at diagnosis in the revised International Scoring System (R-ISS). The significance of some other aberrations needs to be further explained. Since now, few phase 3 randomized trials included analysis on patient’s outcomes according to genetic risk, and further studies are needed to obtain useful data to stratify the choice of initial and subsequent treatment in MM.https://www.mdpi.com/2073-4425/11/12/1453Multiple Myelomagenomic aberrationsclinical trials |
spellingShingle | Mariarosaria Sessa Francesco Cavazzini Maurizio Cavallari Gian Matteo Rigolin Antonio Cuneo A Tangle of Genomic Aberrations Drives Multiple Myeloma and Correlates with Clinical Aggressiveness of the Disease: A Comprehensive Review from a Biological Perspective to Clinical Trial Results Genes Multiple Myeloma genomic aberrations clinical trials |
title | A Tangle of Genomic Aberrations Drives Multiple Myeloma and Correlates with Clinical Aggressiveness of the Disease: A Comprehensive Review from a Biological Perspective to Clinical Trial Results |
title_full | A Tangle of Genomic Aberrations Drives Multiple Myeloma and Correlates with Clinical Aggressiveness of the Disease: A Comprehensive Review from a Biological Perspective to Clinical Trial Results |
title_fullStr | A Tangle of Genomic Aberrations Drives Multiple Myeloma and Correlates with Clinical Aggressiveness of the Disease: A Comprehensive Review from a Biological Perspective to Clinical Trial Results |
title_full_unstemmed | A Tangle of Genomic Aberrations Drives Multiple Myeloma and Correlates with Clinical Aggressiveness of the Disease: A Comprehensive Review from a Biological Perspective to Clinical Trial Results |
title_short | A Tangle of Genomic Aberrations Drives Multiple Myeloma and Correlates with Clinical Aggressiveness of the Disease: A Comprehensive Review from a Biological Perspective to Clinical Trial Results |
title_sort | tangle of genomic aberrations drives multiple myeloma and correlates with clinical aggressiveness of the disease a comprehensive review from a biological perspective to clinical trial results |
topic | Multiple Myeloma genomic aberrations clinical trials |
url | https://www.mdpi.com/2073-4425/11/12/1453 |
work_keys_str_mv | AT mariarosariasessa atangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults AT francescocavazzini atangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults AT mauriziocavallari atangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults AT gianmatteorigolin atangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults AT antoniocuneo atangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults AT mariarosariasessa tangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults AT francescocavazzini tangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults AT mauriziocavallari tangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults AT gianmatteorigolin tangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults AT antoniocuneo tangleofgenomicaberrationsdrivesmultiplemyelomaandcorrelateswithclinicalaggressivenessofthediseaseacomprehensivereviewfromabiologicalperspectivetoclinicaltrialresults |