High-risk cytogenetic abnormalities (HRCAs) are the most critical factor affecting prognosis in multiple myeloma (MM). However, the clinical significance of HRCAs in routine practice has not been fully elucidated. We retrospectively analyzed clinical features and outcome in 60 newly diagnosed MM patients with or without HRCAs including t(4;14), t(14;16), del(17p), and 1q gain/amplification. The median age was 71 years (range, 35–90). Abnormalities with t(4;14), t(14;16), del(17p), and 1q gain/amplification were found in 10, 1, 6, and 21/14 patients, respectively, and 10 patients had ≥ 2 HRCAs. Patients with HRCAs exhibited progressive clinical features such as anemia, high β2-microglobulin, and high LDH. Symptomatic relapse was more common in patients with HRCAs. The median progression-free survival (PFS) by number of HRCAs (0, 1, and ≥ 2) was 51.7, 21.4, and 26.1 months (p = 0.011), and the median overall survival (OS) was not reached, 60.7, and 46.8 months (p = 0.045), respectively. Multivariate analysis revealed that HRCAs were an independent factor for PFS. Accordingly, the second revision of International Staging System (R2-ISS), which incorporates HRCA scores, was more useful for prognostic stratification (p = 0.0023). These results suggest that presence of multiple HRCAs including 1q gain/amplification is associated with advanced stage and poor prognosis in clinical practice as well.

高危细胞遗传学异常 (HRCA) 是影响多发性骨髓瘤 (MM) 预后的最关键因素。然而，HRCA 在常规实践中的临床意义尚未完全阐明。我们回顾性分析了 60 名伴或不伴 HRCA 的新诊断 MM 患者的临床特征和结果，包括t (4;14)、t (14;16)、del(17p) 和 1q 增益/放大。中位年龄为 71 岁（范围 35-90 岁）。异常与t (4;14), t(14;16)、del(17p) 和 1q 增益/放大分别在 10、1、6 和 21/14 名患者中被发现，并且 10 名患者有 ≥ 2 个 HRCA。HRCA 患者表现出进行性临床特征，例如贫血、高 β2-微球蛋白和高 LDH。有症状的复发在 HRCA 患者中更为常见。按 HRCA 数量（0、1 和 ≥ 2）划分的中位无进展生存期 (PFS) 分别为 51.7、21.4 和 26.1 个月 (p = 0.011)，中位总生存期 (OS) 未达到60.7  、和 46.8 个月 ( p  = 0.045)，分别。多变量分析显示 HRCA 是 PFS 的独立因素。因此，结合 HRCA 评分的国际分期系统 (R2-ISS) 的第二次修订对预后分层更有用 ( p = 0.0023）。这些结果表明，包括 1q 增益/扩增在内的多个 HRCA 的存在也与临床实践中的晚期和不良预后相关。