Department of Pathology and Genomic Medicine, The Houston Methodist Hospital, Houston, TX, USA.
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Mod Pathol. 2021 Feb;34(2):327-335. doi: 10.1038/s41379-020-00669-7. Epub 2020 Sep 9.
Gains or amplification (amp) of chromosome 1q21/CKS1B are reported to be a high-risk factor in myeloma. In this retrospective study, we analyzed the impact of CKS1B gain/amp on overall survival in the context of other genetic aberrations, such as TP53 deletion, FGFR3-IGH, IGH-MAF, MYEOV/CCND1-IGH, and RB1, as well as karyotype. The cohort included 132 myeloma patients with CKS1B gain/amp detected by fluorescence in-situ hybridization. There were 72 men and 60 women with a median age of 65 years (range 39-88 years). A normal, simple, or complex karyotype was observed in 39.5%, 5.4%, and 55% of patients, respectively. "Double hit," defined as CKS1B gain/amp coexisting with TP53 deletion, or "triple hit," defined as double hit plus t(4;14)FGFR3-IGH or t(14;16)IGH-MAF, were identified in 25 patients (18.9%) and five patients (3.8%), respectively. Double and triple hit were highly associated with a complex karyotype (p = 0.02). Ninety-nine patients (99/128, 77.3%) received stem cell transplantation. The median follow-up time was 48.2 months (range 2-104 months); 68 patients (51.5%) died, with a median overall survival of 58.8 months. Multivariate analysis (Cox model) showed that double hit with TP53 deletion (p = 0.0031), triple hit (p = 0.01), and complex karyotype (p = 0.0009) were each independently associated with poorer overall survival. Stem cell transplantation was associated with better overall survival, mainly in patients with a double or triple hit and complex karyotype (p = 0.003). These findings indicate that the inferior outcome of myeloma patients with CKS1B gain/amp is attributable to the high number of high-risk patients in this group. The prognostic impact of CKS1B gain/amp depends on the background karyotype and TP53 status.
染色体 1q21/CKS1B 的获得或扩增(amp)被报道为骨髓瘤的高危因素。在这项回顾性研究中,我们分析了 CKS1B 获得/amp 在其他遗传异常(如 TP53 缺失、FGFR3-IGH、IGH-MAF、MYEOV/CCND1-IGH 和 RB1)以及核型背景下对总生存的影响。该队列包括 132 例通过荧光原位杂交检测到 CKS1B 获得/amp 的骨髓瘤患者。其中 72 例为男性,60 例为女性,中位年龄为 65 岁(范围为 39-88 岁)。分别有 39.5%、5.4%和 55%的患者存在正常、简单或复杂核型。“双重打击”定义为 CKS1B 获得/amp 合并 TP53 缺失,或“三重打击”定义为双重打击加上 t(4;14)FGFR3-IGH 或 t(14;16)IGH-MAF,分别在 25 例(18.9%)和 5 例(3.8%)患者中发现。双重和三重打击与复杂核型高度相关(p=0.02)。99 例(128 例中的 99 例,77.3%)患者接受了干细胞移植。中位随访时间为 48.2 个月(范围为 2-104 个月);68 例(51.5%)患者死亡,中位总生存时间为 58.8 个月。多变量分析(Cox 模型)显示,TP53 缺失的双重打击(p=0.0031)、三重打击(p=0.01)和复杂核型(p=0.0009)均与较差的总生存独立相关。干细胞移植与总生存相关,主要与双重或三重打击和复杂核型的患者相关(p=0.003)。这些发现表明,CKS1B 获得/amp 的骨髓瘤患者预后较差归因于该组中高危患者的数量较多。CKS1B 获得/amp 的预后影响取决于背景核型和 TP53 状态。