Department of Internal Medicine, Memorial Hospital West, Pembroke Pines, Florida, United States of America.
NanoString® Technologies, Inc., Seattle, Washington, United States of America.
PLoS One. 2021 Jan 11;16(1):e0245287. doi: 10.1371/journal.pone.0245287. eCollection 2021.
Patients with locally/regionally advanced melanoma were treated with neoadjuvant combination immunotherapy with high-dose interferon α-2b (HDI) and ipilimumab in a phase I clinical trial. Tumor specimens were obtained prior to the initiation of neoadjuvant therapy, at the time of surgery and progression if available. In this study, gene expression profiles of tumor specimens (N = 27) were investigated using the NanoString nCounter® platform to evaluate associations with clinical outcomes (pathologic response, radiologic response, relapse-free survival (RFS), and overall survival (OS)) and define biomarkers associated with tumor response. The Tumor Inflammation Signature (TIS), an 18-gene signature that enriches for response to Programmed cell death protein 1 (PD-1) checkpoint blockade, was also evaluated for association with clinical response and survival. It was observed that neoadjuvant ipilimumab-HDI therapy demonstrated an upregulation of immune-related genes, chemokines, and transcription regulator genes involved in immune cell activation, function, or cell proliferation. Importantly, increased expression of baseline pro-inflammatory genes CCL19, CD3D, CD8A, CD22, LY9, IL12RB1, C1S, C7, AMICA1, TIAM1, TIGIT, THY1 was associated with longer OS (p < 0.05). In addition, multiple genes that encode a component or a regulator of the extracellular matrix such as MMP2 and COL1A2 were identified post-treatment as being associated with longer RFS and OS. In all baseline tissues, high TIS scores were associated with longer OS (p = 0.0166). Also, downregulated expression of cell proliferation-related genes such as CUL1, CCND1 and AAMP at baseline was associated with pathological and radiological response (unadjusted p < 0.01). In conclusion, we identified numerous genes that play roles in multiple biological pathways involved in immune activation, immune suppression and cell proliferation correlating with pathological/radiological responses following neoadjuvant immunotherapy highlighting the complexity of immune responses modulated by immunotherapy. Our observations suggest that TIS may be a useful biomarker for predicting survival outcomes with combination immunotherapy.
局部/区域晚期黑色素瘤患者在一项 I 期临床试验中接受了高剂量干扰素 α-2b (HDI) 和伊匹单抗的新辅助联合免疫治疗。在新辅助治疗开始前、手术时(如果有)和进展时获得肿瘤标本。在这项研究中,使用 NanoString nCounter®平台研究了肿瘤标本的基因表达谱(N = 27),以评估与临床结果(病理反应、影像学反应、无复发生存 (RFS) 和总生存 (OS))的关联,并定义与肿瘤反应相关的生物标志物。肿瘤炎症特征 (TIS) 是一个富集对程序性死亡蛋白 1 (PD-1) 检查点阻断有反应的 18 个基因的特征,也评估了与临床反应和生存的关联。结果表明,新辅助伊匹单抗-HDI 治疗显示出免疫相关基因、趋化因子和参与免疫细胞激活、功能或细胞增殖的转录调节基因的上调。重要的是,基线前炎症基因 CCL19、CD3D、CD8A、CD22、LY9、IL12RB1、C1S、C7、AMICA1、TIAM1、TIGIT、THY1 的表达增加与更长的 OS 相关 (p < 0.05)。此外,还鉴定出多个基因,这些基因编码细胞外基质的成分或调节剂,如 MMP2 和 COL1A2,治疗后与更长的 RFS 和 OS 相关。在所有基线组织中,高 TIS 评分与更长的 OS 相关 (p = 0.0166)。此外,基线时细胞增殖相关基因如 CUL1、CCND1 和 AAMP 的下调表达与病理和影像学反应相关 (未调整的 p < 0.01)。总之,我们鉴定了许多在涉及免疫激活、免疫抑制和细胞增殖的多个生物学途径中发挥作用的基因,这些基因与新辅助免疫治疗后的病理/影像学反应相关,突出了免疫治疗调节的免疫反应的复杂性。我们的观察结果表明,TIS 可能是预测联合免疫治疗生存结果的有用生物标志物。