文章：

多发性骨髓瘤中主要细胞遗传学异常的种族差异：一项多中心研究

Racial differences in primary cytogenetic abnormalities in multiple myeloma: a multi-center study

原文发布日期：2015-01-13

DOI: 10.1038/bcj.2014.91

类型: Original Article

开放获取: 是

英文摘要：

We examined four clinically assessed cytogenetic subtypes (t(11;14), t(4;14), monosomy 13/del13q and monosomy 17/del17p in 292 black patients with newly diagnosed multiple myeloma (MM) from four medical centers, who had fluorescent in situ hybridization testing results available in their medical records. We then compared the prevalence of these abnormalities with a previously characterized Mayo Clinic cohort of 471 patients with MM. We found a significant difference in the prevalence of the t(11;14) immunoglobulin heavy chain (IgH) translocation between blacks and whites, 6.5% versus 17.6%, respectively, P<0.0001. Blacks also had lower rates of the t(4;14) IgH translocation, (5.5% versus 10%); monosomy 13/del13q (29.1 versus 49.3%); and monosomy 17/del17p (7.9% versus 13%). Consequently, 63.4% of blacks versus 34.6% of whites did not have any of the four abnormalities that we studied, P<0.001. As almost all MM is associated with either an IgH translocation or trisomies, we hypothesize that MM in blacks is associated with either excess prevalence of either the trisomic (hyperdiploid) form of MM or an IgH translocation besides t(11;14) or t(4;14). We conclude that there are significant differences in the cytogenetic subtypes of MM that occur in blacks and whites.

摘要翻译： 

我们对来自四个医疗中心的292名新诊断多发性骨髓瘤（MM）黑人患者，检查了四种临床评估的细胞遗传学亚型（t(11;14)、t(4;14)、13号染色体单体/13q缺失和17号染色体单体/17p缺失），这些患者的病历中均有荧光原位杂交检测结果。随后，我们将这些异常的发生率与先前描述的梅奥诊所471例MM患者队列进行了比较。我们发现，黑人与白人之间t(11;14)免疫球蛋白重链（IgH）易位的发生率存在显著差异，分别为6.5%和17.6%，P<0.0001。黑人的t(4;14) IgH易位（5.5%对比10%）、13号染色体单体/13q缺失（29.1%对比49.3%）以及17号染色体单体/17p缺失（7.9%对比13%）发生率也较低。因此，63.4%的黑人患者未出现我们所研究的四种异常中的任何一种，而白人患者的这一比例为34.6%，P<0.001。由于几乎所有的MM都与IgH易位或三体性相关，我们推测黑人MM与三体性（超二倍体）形式MM的过高发生率，或与除t(11;14)和t(4;14)之外的IgH易位有关。我们得出结论，黑人与白人MM的细胞遗传学亚型存在显著差异。

原文链接：

Racial differences in primary cytogenetic abnormalities in multiple myeloma: a multi-center study