Background: Salivary gland cancers (SGCs) are a rare and heterogeneous group of malignancies, accounting for approximately 5% of head and neck cancers. Despite their rarity, advances in molecular profiling have revealed a variety of genetic and molecular pathways, many of which are potentially actionable with targeted therapies.Methods: We reviewed the current literature involving the molecular landscape of SGCs, encompassing the diagnostic and prognostic value of tissue and liquid biomarkers and the potential therapeutic targets across various histological subtypes.Results: Our review highlights key molecular diagnostic findings such as theCRTC1-MAML2fusion in mucoepidermoid carcinoma andMYB-NFIBrearrangements in adenoid cystic carcinoma, but also targetable alterations such as HER2 and AR positivity in salivary duct carcinoma andETV6-NTRK3fusion in secretory carcinoma. Liquid biopsy (both blood- or salivary-based), including circulating tumor DNA, circulating tumor cells, and miRNAs, offers novel, noninvasive approaches for disease monitoring and personalized treatment. Emerging therapies such as HER2 inhibitors, androgen deprivation therapy, and TRK inhibitors underscore the shift towards precision oncology in managing these malignancies.Conclusions: Despite promising advances, challenges remain due to the rarity and phenotypic heterogeneity of SGCs, emphasizing the need for molecularly stratified clinical trials. This review presents an overview of tissue and liquid biomarkers, focusing on molecular targets and therapeutic innovations that lay the foundation for improved diagnostic and treatment strategies for SGCs.
背景：唾液腺癌是一组罕见且异质性强的恶性肿瘤，约占头颈部肿瘤的5%。尽管发病率较低，分子谱分析技术的进展已揭示其涉及多种遗传及分子通路，其中许多通路可能成为靶向治疗的潜在作用位点。 方法：我们系统回顾了当前关于唾液腺癌分子特征的相关文献，涵盖组织和液体生物标志物的诊断与预后价值，以及不同组织学亚型中潜在的治疗靶点。 结果：本综述重点阐述了关键的分子诊断发现，例如黏液表皮样癌中的CRTC1-MAML2基因融合与腺样囊性癌中的MYB-NFIB基因重排，同时揭示了可靶向的分子改变，如唾液腺导管癌中的HER2与雄激素受体阳性表达，以及分泌性癌中的ETV6-NTRK3基因融合。液体活检（基于血液或唾液）技术，包括循环肿瘤DNA、循环肿瘤细胞及微小RNA检测，为疾病监测和个体化治疗提供了新型无创手段。HER2抑制剂、雄激素剥夺疗法及TRK抑制剂等新兴疗法，凸显了精准肿瘤学在管理这类恶性肿瘤中的发展趋势。 结论：尽管取得了令人瞩目的进展，唾液腺癌的罕见性和表型异质性仍带来持续挑战，这强调了开展分子分型临床试验的必要性。本综述系统梳理了组织与液体生物标志物的研究现状，重点关注分子靶点与治疗创新，为完善唾液腺癌的诊断与治疗策略奠定基础。
Salivary Gland Cancers in the Era of Molecular Analysis: The Role of Tissue and Liquid Biomarkers
肿瘤(癌症)患者之家