{"id":263,"title":"Potential biomarker candidates for improving diagnosis and disease treatment in adenomyosis","title_zh":"子宫腺肌病诊断与治疗潜在生物标志物的研究进展：从基因组到微生物组的综述","url":"https://pubmed.ncbi.nlm.nih.gov/42971819","doi":"10.1016/j.ebiom.2026.106481","pmid":"42971819","journal":"EBioMedicine","kind":"paper","lang":"en","published_at":"2026-11-02T00:00:00+00:00","fetched_at":"2026-11-08T03:44:00+00:00","authors":["Merino-Pérez A","Albert AB","Del Mar Mascarell-López M","Pellicer A","Corachán A","Ferrero H"],"primary_topic":"endometrium","topics":[{"slug":"endometrium","score":8.0,"hits":["adenomyosis","endometriosis","endometrium","fibroids","uterine"]},{"slug":"omics-methods","score":4.0,"hits":["metabolomic","multi-omics","proteomic","transcriptomic"]},{"slug":"repro-microbiome","score":1.0,"hits":["lactobacillus"]}],"topic_score":8.0,"preference_score":10.0,"preference_labels":["多组学整合分析（任意生殖对象）"],"llm_score":72.0,"final_score":88.0,"score_dims":{"novelty":62,"rigor":65,"impact":74,"relevance":82,"translation":70},"recommend_reason":"系统整合了腺肌病多组学与微生物组候选标志物，并明确指出无创诊断与保留生育力诊断的未满足需求，对内膜相关疾病研究者与临床医生有较好参考价值；但为叙述性综述、缺乏定量合成与外部验证，证据层级有限。","keywords":["子宫腺肌病","生物标志物","多组学","在位内膜","无创诊断","生殖道微生物组"],"selected":1,"story_id":191,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-uterus-pregnancy","source_name":"PubMed · 内膜/植入/早孕","source_tier":1,"mention_count":1,"has_interpretation":false,"journal_key":"ebiomedicine","journal_tier":"general-top","journal_if":9.7,"is_mock":false,"summary_zh":"本文为综述，系统梳理了子宫腺肌病生物标志物研究现状。腺肌病发病机制不明、与内异症及子宫肌瘤临床重叠，确诊依赖需切除子宫的组织病理学，限制了保留生育力的诊断路径。作者汇总了基于常规定量分子技术与高通量多组学（基因组、转录组、蛋白组、代谢组及微生物组）在在位内膜、血液、尿液、粪便、宫颈阴道灌洗液与阴道拭子中发现的候选标志物，如 STEAP1、TOMM20、GLT8D2、NME5、hsa_circ_008959/hsa-miR-124-3p/SLC15A4 联合VAS评分、miR-92a-3p、Weissella confusa 与 Lactobacillus zeae 等。结论认为候选标志物虽具潜力，但缺乏外部验证、方法标准化与多中心大样本研究，尚不足以进入常规临床。","summary":"Adenomyosis remains challenging to diagnose due to its unclear pathogenesis and clinical overlap with conditions such as endometriosis and uterine fibroids. While non-invasive imaging techniques like transvaginal ultrasound and magnetic resonance imaging have improved adenomyosis detection, histopathological examination remains the gold standard. As this typically requires hysterectomy, it limits fertility-preserving diagnostic options. Therefore, the search for potential biomarkers is essential to improve the diagnosis of adenomyosis. This review summarises current evidence on genomic, transcriptomic, proteomic, metabolomic and microbiome biomarkers identified using conventional molecular techniques and high-throughput multi-omics approaches in eutopic endometrium, blood, urine, faeces, cervicovaginal lavage and vaginal swab samples with potential clinical applicability, enhancing diagnostic accuracy, and enabling early detection and monitoring. In addition, describing adenomyosis biomarkers may enhance the understanding of adenomyosis pathogenesis and help identify new therapeutic approaches. Although numerous candidate biomarkers have shown promising results (e.g. STEAP1, TOMM20, GLT8D2, and NME5, hsa_circ_008959/hsa-miR-124-3p/SLC15A4 + VAS score, miR-92a-3p or Weissella confusa, and Lactobacillus zeae), the current evidence remains insufficient for their implementation in routine clinical practice owing to the lack of external validation, standardised methodologies, and large multicentre studies.","interpretation_basis":null,"fulltext_status":"non_oa","interpretation":null,"fulltext":{"available":false,"status":"non_oa","reason":"Europe PMC 未收录免费全文（非 OA，或该来源不在 Europe PMC 全文范围内，如 bioRxiv 预印本）：isOpenAccess=False, inEPMC=False","pmcid":null,"license":null,"chars":0,"source":"Europe PMC","fetched_at":"2026-11-08T04:17:15+00:00"}}