Genomic studies of multiple myeloma reveal an association between X chromosome alterations and genomic profile complexity

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• 作者：Tiberio Sticca ; Jean-Hubert Caberg ; Stephane Wenric ; Christophe Poulet ; Christian Herens ; Mauricette Jamar ; Claire Josse ; Sonia El Guendi ; St&eacute ; phanie Max ; Yves Beguin ; Andr&eacute ; Gothot ; Jo Caers and Vincent Bours
• 刊名：Genes, Chromosomes and Cancer
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：56
• 期：1
• 页码：18-27
• 全文大小：631K
• ISSN：1098-2264

文摘

The genomic profile of multiple myeloma (MM) has prognostic value by dividing patients into a good prognosis hyperdiploid group and a bad prognosis nonhyperdiploid group with a higher incidence of IGH translocations. This classification, however, is inadequate and many other parameters like mutations, epigenetic modifications, and genomic heterogeneity may influence the prognosis. We performed a genomic study by array-based comparative genomic hybridization on a cohort of 162 patients to evaluate the frequency of genomic gains and losses. We identified a high frequency of X chromosome alterations leading to partial Xq duplication, often associated with inactive X (Xi) deletion in female patients. This partial X duplication could be a cytogenetic marker of aneuploidy as it is correlated with a high number of chromosomal breakages. Patient with high level of chromosomal breakage had reduced survival regardless the region implicated. A higher transcriptional level was shown for genes with potential implication in cancer and located in this altered region. Among these genes, m>IKBKGm> and m>IRAK1m> are members of the NFKB pathway which plays an important role in MM and is a target for specific treatments.