Greenberg A J, Rajkumar S V, Therneau T M, Singh P P, Dispenzieri A, Kumar S K
1] Center for Translational Science Activities, Rochester, MN, USA [2] Division of Epidemiology, Department of Health Sciences Research, Rochester, MN, USA.
Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.
Leukemia. 2014 Feb;28(2):398-403. doi: 10.1038/leu.2013.258. Epub 2013 Sep 5.
Multiple myeloma (MM) consists of several distinct cytogenetic subtypes, and we hypothesized that each subtype may have a unique mode of initial presentation and end-organ damage. We studied 484 patients with newly diagnosed MM to determine the relationship between specific myeloma-defining event (MDE) and the cytogenetic subtype. Patients were divided into four non-overlapping groups based on the MDE at diagnosis: isolated renal failure, isolated anemia, isolated lytic bone disease or a combination (mixed). MM with translocations without trisomies accounted for 30% of all patients, but accounted for 50% of patients with renal failure. Specifically, the t(14;16) translocation accounted for only 5% of all MM patients, but was present in 13.5% of patients with renal failure as MDE. Among patients with t(14;16), 25% presented with renal failure only as MDE. Patients with isolated renal failure as MDE had significantly poorer survival compared with all other groups, whereas patients with bone disease as MDE had the best outcome (P<0.001). Our findings support the hypothesis that in addition to prognostic differences, there is significant heterogeneity in clinical presentation associated with the cytogenetic subtype, suggesting that MM encompasses a group of cytogenetically and phenotypically distinct disorders rather than a single entity.
多发性骨髓瘤（MM）由几种不同的细胞遗传学亚型组成，我们推测每种亚型可能具有独特的初始表现模式和终末器官损害。我们研究了484例新诊断的MM患者，以确定特定骨髓瘤定义事件（MDE）与细胞遗传学亚型之间的关系。根据诊断时的MDE将患者分为四个不重叠的组：孤立性肾衰竭、孤立性贫血、孤立性溶骨性骨病或合并症（混合性）。无三体的易位型MM占所有患者的30%，但占肾衰竭患者的50%。具体而言，t(14;16)易位仅占所有MM患者的5%，但在以肾衰竭为MDE的患者中占13.5%。在t(14;16)患者中，25%仅以肾衰竭作为MDE表现。以孤立性肾衰竭为MDE的患者与所有其他组相比，生存率显著较差，而以骨病为MDE的患者预后最佳（P<0.001）。我们的研究结果支持以下假设：除了预后差异外，与细胞遗传学亚型相关的临床表现存在显著异质性，这表明MM包含一组细胞遗传学和表型不同的疾病，而不是单一实体。
