Background/Objectives: Appendiceal cancer (AC) is a rare and understudied malignancy with limited genomic data available to guide clinical interventions. Historically treated as a subtype of colorectal cancer, AC is now recognized as a distinct disease with unique histologic subtypes and molecular features. This review aims to consolidate current genomic data across AC subtypes and explore the clinical relevance of recurrent mutations.Methods: A systematic literature review was performed in accordance with general Preferred Reporting Items for Systemic Reviews and Meta-Analyses (PRISMA) guidelines. Using search engines such as PubMed and Web of Science, we selected studies based on relevance to AC genomics using search terms such as “appendix cancer”, “appendiceal cancer”, “pseudomyxoma peritonei”, “sequencing”, “mutation”, and “genotype”.Results: AC comprises five major histologic subtypes—appendiceal neuroendocrine neoplasms (ANENs), mucinous appendiceal neoplasms (MANs), goblet cell adenocarcinomas (GCAs), colonic-type adenocarcinomas (CTAs) and signet ring cell adenocarcinomas (SRCs)—each with unique clinical behaviors and mutational profiles. Low-grade tumors, such as ANENs and MANs, frequently harborKRASandGNASmutations, while high-grade subtypes, such as CTAs and SRCs, are enriched forTP53,APC, andSMADgene alterations. GCA tumors exhibit a distinct mutational spectrum involving chromatin remodeling genes such asARID1AandKMT2D. Compared to colorectal cancer, AC demonstrates lower frequencies ofAPCandTP53mutations and a higher prevalence ofGNASmutations, consistent with a pathological divergence from CRC.Conclusions: The genomic heterogeneity of AC is commensurate with its histological complexity and has important implications for diagnosis, prognosis and treatment. While certain actionable mutations are present in a subset of tumors, large-scale genomic characterization efforts and development of subtype-specific models will be essential for advancing precision medicine in AC.
**背景/目的：** 阑尾癌是一种罕见且研究不足的恶性肿瘤，可用于指导临床干预的基因组数据有限。历史上，阑尾癌被视为结直肠癌的一个亚型，但现在已被认为是一种具有独特组织学亚型和分子特征的独立疾病。本综述旨在整合当前关于阑尾癌各亚型的基因组数据，并探讨复发性突变的临床相关性。 **方法：** 根据系统性综述和荟萃分析优先报告项目的一般指南，进行了系统性文献综述。使用PubMed和Web of Science等搜索引擎，我们基于与阑尾癌基因组学的相关性，使用“阑尾癌”、“阑尾肿瘤”、“腹膜假性黏液瘤”、“测序”、“突变”和“基因型”等检索词筛选研究。 **结果：** 阑尾癌包含五种主要的组织学亚型——阑尾神经内分泌肿瘤、黏液性阑尾肿瘤、杯状细胞腺癌、结肠型腺癌和印戒细胞腺癌——每种亚型都具有独特的临床行为和突变谱。低级别肿瘤，如阑尾神经内分泌肿瘤和黏液性阑尾肿瘤，常携带KRAS和GNAS突变；而高级别亚型，如结肠型腺癌和印戒细胞腺癌，则富集TP53、APC和SMAD基因的改变。杯状细胞腺癌表现出独特的突变谱，涉及染色质重塑基因，如ARID1A和KMT2D。与结直肠癌相比，阑尾癌的APC和TP53突变频率较低，而GNAS突变更为普遍，这与阑尾癌在病理学上与结直肠癌的分化一致。 **结论：** 阑尾癌的基因组异质性与其组织学复杂性相称，对诊断、预后和治疗具有重要意义。虽然部分肿瘤中存在某些可操作的突变，但大规模的基因组特征研究以及亚型特异性模型的开发，对于推进阑尾癌的精准医疗至关重要。
肿瘤(癌症)患者之家