PDF(Pubmed)
Abstract：
Multiple myeloma (MM) is a plasma cell dyscrasia which is typically characterized by identifiable paraprotein in the blood or urine. However, the minority of patients in whom paraprotein cannot be identified are designated non-secretory MM (NSM). Evaluation of treatment response is more difficult in these patients as paraprotein levels cannot be followed. A dearth of clinical trials including these patients exists because of an inability to measure response by classical serum and urine measurement mechanisms as well as seemingly decreased overall survival compared to secretory MM. NSM is subdivided into four subgroups: \"non-producers\", \"true non-secretors\", \"oligosecretors\" and \"false non-secretors\". The \"non-producers\" phenotype is associated with more aggressive disease course. Translocations such as those involving the proto-oncogene c-MYC (chromosome 8) and the lambda light chain gene IGL (chromosome 22) - more commonly associated with Burkitt lymphoma - are rare in MM. We describe a 60-year-old male with NSM who was identified as having multiple high-risk features including complex cytogenetics and a non-producer phenotype, which are features not considered in conventional MM staging and risk stratification. This case highlights the need for awareness of phenotypes and cytogenetics associated with higher clinical risk that are not included in the revised International Staging System.
摘要：
多发性骨髓瘤（MM）是一种浆细胞发育不良，其特征通常是血液或尿液中可识别的副蛋白。然而,少数无法鉴定副蛋白的患者被指定为非分泌性MM（NSM）。由于无法跟踪副蛋白水平，因此在这些患者中评估治疗反应更加困难。缺乏包括这些患者的临床试验，因为无法通过经典的血清和尿液测量机制测量反应，并且与分泌型MMMM相比似乎降低了总体生存率。NSM细分为四个子组：“非生产者”，\"真正的非秘密者\",“寡分泌者”和“虚假非分泌者”。“非生产者”表型与更具侵略性的疾病进程有关。易位，例如涉及原癌基因c-MYC（8号染色体）和λ轻链基因IGL（22号染色体）的易位，在MM中很少见。我们描述了一名患有NSM的60岁男性，他被鉴定为具有多种高风险特征，包括复杂的细胞遗传学和非生产者表型。这是常规MM分期和风险分层中未考虑的特征。该案例强调了对表型和细胞遗传学的认识的必要性，这些表型和细胞遗传学与修订后的国际分期系统中未包括在内的较高临床风险相关。
