Kjeldsen Eigil
Haemodiagnostic Laboratory, Cancer Cytogenetics Section, Department of Haematology, Aarhus University Hospital, Aarhus, Denmark
Cancer Genomics Proteomics. 2016 Mar-Apr;13(2):91-127.
The combination of serum β2-microglubulin and albumin levels is highly prognostic in multiple myeloma (MM), defined as the International Staging System (ISS). Recurrent genomic abnormalities present in myeloma cells also have a strong prognostic power. This study aimed to assess, in a routine diagnostic setting, whether genomic aberrations can be used to identify sub-groups in ISS staging, as this system does not incorporate intrinsic myeloma cell variability at the molecular level.
A prospective population-based study of 123 patients newly diagnosed with MM with ISS staging were included for karyotyping, interphase nuclei fluorescence in situ hybridization (iFISH) and oligo-based array comparative genomic hybridization (oaCGH) analyses.
Clonal abnormalities were identified in 27% of analyses by karyotyping, in 83% by iFISH, and in 99% by oaCGH analysis. ISS staging combined with oaCGH aberrations identified ISS sub-groups.
oaCGH analysis is a valuable asset in detecting prognostically relevant genomic abnormalities. The combination of oaCGH data with ISS staging might help define new sub-groups in MM.
血清β2-微球蛋白和白蛋白水平的联合在多发性骨髓瘤（MM）中具有高度预后价值，这被定义为国际分期系统（ISS）。骨髓瘤细胞中存在的复发性基因组异常也具有很强的预后能力。本研究旨在评估在常规诊断环境下，基因组畸变是否可用于识别ISS分期中的亚组，因为该系统未纳入骨髓瘤细胞在分子水平上的内在变异性。
一项基于人群的前瞻性研究纳入了123例新诊断为MM且已进行ISS分期的患者，进行核型分析、间期核荧光原位杂交（iFISH）和基于寡核苷酸的阵列比较基因组杂交（oaCGH）分析。
通过核型分析在27%的分析中鉴定出克隆性异常，通过iFISH在83%的分析中鉴定出克隆性异常，通过oaCGH分析在99%的分析中鉴定出克隆性异常。ISS分期与oaCGH畸变相结合可识别ISS亚组。
oaCGH分析在检测与预后相关的基因组异常方面是一项有价值的工具。oaCGH数据与ISS分期相结合可能有助于定义MM中的新亚组。
