Department of Hematology, Mayo Clinic, Scottsdale, AZ 85259, USA.
Hematology Am Soc Hematol Educ Program. 2011;2011:344-53. doi: 10.1182/asheducation-2011.1.344.
Multiple myeloma (MM) is malignancy of isotype-switched, BM-localized plasma cells that frequently results in bone destruction, BM failure, and death. Important molecular subgroups are identified by three classes of recurrent immunoglobulin gene translocations and hyperdiploidy, both of which affect disease course. From a clinical standpoint, it is critical to identify MM patients carrying the t(4;14) translocation, which is present in 15% of myelomas and is associated with dysregulation of WHSC1/MMSET and often FGFR3. These patients should all receive bortezomib as part of their initial induction treatment because this has been shown to significantly prolong survival. In contrast, patients with translocations affecting the MAF family of transcription factors, del17p, or gene-expression profiling (GEP)-defined high-risk disease appear to have a worse prognosis that is not dramatically improved by any intervention. These patients should be enrolled in innovative clinical trials. The remaining patients with cyclin D translocations or hyperdiploidy do well with most therapies, and the goal should be to control disease while minimizing toxicity.
多发性骨髓瘤（MM）是一种免疫球蛋白基因易位和超二倍体影响疾病进程的、发生于骨髓的、伴有类型转换的、局限性浆细胞恶性肿瘤，其常导致骨质破坏、骨髓衰竭和死亡。临床上，识别 t（4;14）易位的 MM 患者非常重要，该易位存在于 15%的骨髓瘤中，与 WHSC1/MMSET 的失调和常伴有 FGFR3 相关。所有这些患者都应接受硼替佐米作为初始诱导治疗的一部分，因为它已被证明可显著延长生存。相比之下，伴有影响 MAF 转录因子家族、del17p 或基因表达谱（GEP）定义的高危疾病的易位的患者预后较差，任何干预都不能显著改善。这些患者应被纳入创新的临床试验中。对于大多数治疗反应良好的伴有 cyclin D 易位或超二倍体的患者，目标应该是在最小化毒性的同时控制疾病。
