Sei Shizuko, Ahadova Aysel, Keskin Derin B, Bohaumilitzky Lena, Gebert Johannes, von Knebel Doeberitz Magnus, Lipkin Steven M, Kloor Matthias
Division of Cancer Prevention, National Cancer Institute, National Institutes of Health, Rockville, MD, United States.
Department of Applied Tumor Biology, Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Front Oncol. 2023 Mar 22;13:1147590. doi: 10.3389/fonc.2023.1147590. eCollection 2023.
Hereditary cancer syndromes (HCS) account for 5~10% of all cancer diagnosis. Lynch syndrome (LS) is one of the most common HCS, caused by germline mutations in the DNA mismatch repair (MMR) genes. Even with prospective cancer surveillance, LS is associated with up to 50% lifetime risk of colorectal, endometrial, and other cancers. While significant progress has been made in the timely identification of germline pathogenic variant carriers and monitoring and early detection of precancerous lesions, cancer-risk reduction strategies are still centered around endoscopic or surgical removal of neoplastic lesions and susceptible organs. Safe and effective cancer prevention strategies are critically needed to improve the life quality and longevity of LS and other HCS carriers. The era of precision oncology driven by recent technological advances in tumor molecular profiling and a better understanding of genetic risk factors has transformed cancer prevention approaches for at-risk individuals, including LS carriers. MMR deficiency leads to the accumulation of insertion and deletion mutations in microsatellites (MS), which are particularly prone to DNA polymerase slippage during DNA replication. Mutations in coding MS give rise to frameshift peptides (FSP) that are recognized by the immune system as neoantigens. Due to clonal evolution, LS tumors share a set of recurrent and predictable FSP neoantigens in the same and in different LS patients. Cancer vaccines composed of commonly recurring FSP neoantigens selected through prediction algorithms have been clinically evaluated in LS carriers and proven safe and immunogenic. Preclinically analogous FSP vaccines have been shown to elicit FSP-directed immune responses and exert tumor-preventive efficacy in murine models of LS. While the immunopreventive efficacy of "off-the-shelf" vaccines consisting of commonly recurring FSP antigens is currently investigated in LS clinical trials, the feasibility and utility of personalized FSP vaccines with individual HLA-restricted epitopes are being explored for more precise targeting. Here, we discuss recent advances in precision cancer immunoprevention approaches, emerging enabling technologies, research gaps, and implementation barriers toward clinical translation of risk-tailored prevention strategies for LS carriers. We will also discuss the feasibility and practicality of next-generation cancer vaccines that are based on personalized immunogenic epitopes for precision cancer immunoprevention.
遗传性癌症综合征(HCS)占所有癌症诊断病例的5%至10%。林奇综合征(LS)是最常见的HCS之一,由DNA错配修复(MMR)基因的种系突变引起。即使进行前瞻性癌症监测,LS患者一生中患结直肠癌、子宫内膜癌和其他癌症的风险仍高达50%。虽然在及时识别种系致病变异携带者以及监测和早期发现癌前病变方面取得了重大进展,但癌症风险降低策略仍主要围绕内镜或手术切除肿瘤病变和易感器官展开。迫切需要安全有效的癌症预防策略来提高LS和其他HCS携带者的生活质量和寿命。肿瘤分子图谱的最新技术进展以及对遗传风险因素的更好理解推动了精准肿瘤学时代的到来,这改变了包括LS携带者在内的高危个体的癌症预防方法。MMR缺陷导致微卫星(MS)中插入和缺失突变的积累,这些突变在DNA复制过程中特别容易发生DNA聚合酶滑动。编码MS的突变会产生移码肽(FSP),免疫系统将其识别为新抗原。由于克隆进化,LS肿瘤在同一LS患者和不同LS患者中共享一组反复出现且可预测的FSP新抗原。通过预测算法选择的由常见反复出现的FSP新抗原组成的癌症疫苗已在LS携带者中进行了临床评估,并被证明是安全且具有免疫原性的。临床前研究表明,类似的FSP疫苗在LS小鼠模型中可引发针对FSP的免疫反应并发挥肿瘤预防作用。虽然目前正在LS临床试验中研究由常见反复出现的FSP抗原组成的“现成”疫苗的免疫预防效果,但正在探索具有个体HLA限制性表位的个性化FSP疫苗的可行性和实用性,以实现更精确的靶向。在此,我们讨论精准癌症免疫预防方法的最新进展、新兴的 enabling 技术、研究差距以及将风险定制预防策略临床转化应用于LS携带者的实施障碍。我们还将讨论基于个性化免疫原性表位的下一代癌症疫苗用于精准癌症免疫预防的可行性和实用性。