Szalat Raphaël, Munshi Nikhil C
Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, United States.
Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, United States; VA Boston Healthcare System, Boston, MA, United States.
Curr Opin Genet Dev. 2015 Feb;30:56-65. doi: 10.1016/j.gde.2015.03.008. Epub 2015 May 16.
Multiple myeloma (MM) is an incurable malignancy in majority of patients characterized by clonal proliferation of plasma cells. To date, treatment is established based on general conditions and age of patients. However, MM is a heterogeneous disease, featured by various subtypes and different outcomes. Thus, the understanding of MM biology is currently a major challenge to eventually cure the disease. During the last decade, karyotype studies and gene expression profiling have identified robust prognostic markers as well as a widespread genomic landscape. More recently, studies of epigenetic, transcriptional modifications and next generation sequencing have allowed characterization of critical genes and pathways, clonal heterogeneity and mutational profiles involved in myelomagenesis. Altogether, these findings constitute important tools to develop new targeted and personalized therapies in MM.
多发性骨髓瘤（MM）在大多数患者中是一种无法治愈的恶性肿瘤，其特征为浆细胞的克隆性增殖。迄今为止，治疗方案是根据患者的一般状况和年龄制定的。然而，MM是一种异质性疾病，具有多种亚型和不同的预后。因此，目前了解MM生物学特性是最终治愈该疾病的一项重大挑战。在过去十年中，核型研究和基因表达谱分析已经确定了强大的预后标志物以及广泛的基因组格局。最近，表观遗传学、转录修饰和下一代测序研究使得参与骨髓瘤发生的关键基因和信号通路、克隆异质性和突变谱得以表征。总之，这些发现构成了开发MM新的靶向和个性化疗法的重要工具。
