Division of Hematology, Mayo Clinic, Rochester, MN, USA.
Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Blood Cancer J. 2020 Aug 11;10(8):82. doi: 10.1038/s41408-020-00348-5.
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.
细胞遗传学异常在大多数多发性骨髓瘤（MM）患者中都存在。虽然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和治疗反应的关联的数据有限。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 Mayo 诊所诊断为 MM 并在诊断时通过 FISH 进行细胞遗传学检测的 2027 例患者。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 和≥50%骨髓浆细胞有关；t(4;14)与更高的血清单克隆蛋白和浆细胞增殖有关。与三体相比，基于蛋白酶体抑制剂（PI）的治疗对 IgH 易位的总体缓解率更高（83%对 71%，P=0.002），但与基于免疫调节药物（IMiD）的治疗相比，三体的缓解率更高（87%对 75%，P<0.001）。与 IgH 易位相比，基于 IMiD 的治疗（32.1 对 18.4 个月，P<0.001）和 PI+IMiD 治疗（44.0 对 27.4 个月，P=0.003），三体的下一次治疗时间更长。在所有组中，PI+IMiD 联合治疗的结果都更好。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 易位和三体可能分别与更好的 PI 和 IMiD 反应相关。
