LRF UKMF Cytogenetic Database, University of Southampton, Wessex Regional Genetics Laboratory, Salisbury, Wilts, UK.
Haematologica. 2010 Jul;95(7):1221-5. doi: 10.3324/haematol.2009.016329. Epub 2010 Apr 21.
A large series of plasma cell dyscrasias (n=2207) was examined for translocations which deregulate the MAF genes, t(14;20)(q32;q12) and t(14;16)(q32;q23), and their disease behavior was compared to a group characterized by the t(4;14)(p16;q32) where CCND2 is also up-regulated. The t(14;20) showed low prevalence in myeloma (27/1830, 1.5%) and smoldering myeloma (1/148, <1%) with a higher incidence in MGUS (9/193, 5% P=0.005). Strong associations with del(13) (76%), non-hyperdiploidy (83%) and gain of 1q (58%) were seen but no association with an IgA M-protein or absence of bone disease was noted. All three translocations were associated with poor outcome in myeloma, but strikingly all t(14;20) MGUS/smoldering myeloma cases (n=10) had stable, low level disease. In contrast, the 10 t(14;16) and 25 t(4;14) MGUS/smoldering myeloma cases were associated with both evolving and non-evolving disease. None of the associated genetic abnormalities helped to predict for progression from MGUS or smoldering myeloma.
一项包含 2207 例浆细胞异常疾病的大型研究，分析了导致 MAF 基因（t14;20 和 t14;16）失稳的易位，比较了这些疾病的行为特征与 t4;14的区别，后者同样导致 CCND2 的上调。t(14;20) 在多发性骨髓瘤（27/1830，1.5%）和冒烟型骨髓瘤（1/148，<1%）中的发生率较低，但在意义未明的单克隆丙种球蛋白血症（MGUS）（9/193，5%，P=0.005）中发病率较高。该易位与 del(13)（76%）、非超二倍体（83%）和 1q 获得（58%）强烈相关，但与 IgA M 蛋白或无骨病无关。这三种易位都与多发性骨髓瘤的不良预后相关，但令人惊讶的是，所有的 t(14;20)MGUS/冒烟型骨髓瘤病例（n=10）都有稳定的低水平疾病。相比之下，10 例 t(14;16)和 25 例 t(4;14)MGUS/冒烟型骨髓瘤病例与进展和不进展疾病都有关。这些相关的遗传异常均不能预测从 MGUS 或冒烟型骨髓瘤进展。
