University of Coimbra, Cytogenetics and Genomics Laboratory, Faculty of Medicine, Coimbra, Portugal.
University of Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR) and Center of Investigation on Environment Genetics and Oncobiology (CIMAGO), Faculty of Medicine, Coimbra, Portugal.
J Clin Pathol. 2022 Jun;75(6):422-425. doi: 10.1136/jclinpath-2020-207204. Epub 2021 Mar 2.
Multiple myeloma (MM) genomic complexity reflects in the variable patients' clinical presentation. Genome-wide studies seem to be a reasonable alternative to identify critical genomic lesions. In the current study, we have performed the genomic characterisation of a Portuguese cohort of patients with MM by array comparative genomic hybridisation. Overall, the most frequently detected alterations were 13q deletions, gains of 1q, 19p, 15q, 5p and 7p and trisomy 9. Even though some identified genomic alterations were previously associated with a prognostic value, other abnormalities remain with unknown, but putative significance for patients' clinical practice. These genomic alterations should be further assessed as possible biomarkers.
多发性骨髓瘤(MM)的基因组复杂性反映在患者不同的临床表现中。全基因组研究似乎是识别关键基因组病变的合理选择。在本研究中,我们通过 array 比较基因组杂交对葡萄牙 MM 患者队列进行了基因组特征分析。总体而言,最常检测到的改变是 13q 缺失、1q、19p、15q、5p 和 7p 的增益以及 9 号染色体三体。尽管一些确定的基因组改变以前与预后价值相关,但其他异常仍然具有未知但可能对患者临床实践有意义。这些基因组改变应进一步评估为可能的生物标志物。