文章：

多发性骨髓瘤的细胞遗传学异常：与疾病特征及治疗反应的关系

Cytogenetic abnormalities in multiple myeloma: association with disease characteristics and treatment response

原文发布日期：2020-08-11

DOI: 10.1038/s41408-020-00348-5

类型: Article

开放获取: 是

英文摘要：

Cytogenetic abnormalities are found in most multiple myeloma (MM) patients. Although their prognostic value has been well studied, there are limited data on the association of primary cytogenetic abnormalities with disease characteristics and treatment response. This study was designed to evaluate these associations. This is a retrospective study including 2027 Mayo Clinic patients diagnosed with MM between February 2004 and February 2018 who had cytogenetic testing by FISH at diagnosis. Translocations t(4;14), t(14;16), t(6;14), and t(14;20) were associated with anemia, beta2microglobulin >5.5 µg/ml and ≥50% bone marrow plasma cells; t(4;14) was associated with higher serum monoclonal protein and plasma cell proliferation. Overall response rate to proteasome inhibitor (PI)-based treatment was higher for IgH translocations compared to trisomies (83% vs. 71%, P = 0.002), but was higher for trisomies with immunomodulatory drug (IMiD)-based treatment (87% vs. 75%, P < 0.001). Time to next treatment was longer with trisomies than IgH translocation with IMiD-based (32.1 vs. 18.4 months, P < 0.001) and PI + IMiD-based (44.0 vs. 27.4 months, P = 0.003) treatments. Outcomes were superior with PI + IMiD combinations in all groups. Our results show that t(4;14), t(14;16), t(6;14), and t(14;20) are associated with high-risk disease characteristics, and IgH translocations and trisomies may be associated with better responses to PIs and IMiDs, respectively.
 

摘要翻译： 

多数多发性骨髓瘤患者中存在细胞遗传学异常。尽管其预后价值已得到充分研究，但关于原发性细胞遗传学异常与疾病特征及治疗反应关联的数据仍有限。本研究旨在评估这些关联。这是一项回顾性研究，纳入了2004年2月至2018年2月期间在梅奥诊所确诊的2027例多发性骨髓瘤患者，所有患者在诊断时均通过FISH进行了细胞遗传学检测。易位t(4;14)、t(14;16)、t(6;14)和t(14;20)与贫血、β2微球蛋白>5.5μg/ml及骨髓浆细胞比例≥50%相关；t(4;14)与较高的血清单克隆蛋白和浆细胞增殖相关。基于蛋白酶体抑制剂的治疗总反应率在IgH易位患者中高于三体性患者（83% vs. 71%，P=0.002），但在基于免疫调节剂的治疗中，三体性患者的反应率更高（87% vs. 75%，P<0.001）。在接受基于免疫调节剂（32.1 vs. 18.4个月，P<0.001）及基于PI+IMiD（44.0 vs. 27.4个月，P=0.003）的治疗时，三体性患者的至下次治疗时间均长于IgH易位患者。在所有组别中，PI+IMiD联合治疗的结局均更优。我们的结果表明，t(4;14)、t(14;16)、t(6;14)和t(14;20)与高危疾病特征相关，而IgH易位和三体性可能分别与对蛋白酶体抑制剂和免疫调节剂的更好反应相关。

原文链接：

Cytogenetic abnormalities in multiple myeloma: association with disease characteristics and treatment response