对探索上尿路尿路上皮癌 (UTUC) 患者的微卫星不稳定性/错配修复缺陷 (MSI/dMMR) 表型的文献进行合作审查。对 Medline 上现有文献的合作审查是由美国癌症委员会进行的法国泌尿外科协会报告描述 UTUC 患者 MSI/dMMR 表型的遗传机制、调查、患病率和影响的研究。导致 UTUC 患者 MSI/dMMR 表型的主要遗传机制与一个等位基因的体质突变有关Lynch 综合征中的 MMR 基因 MLH1、MSH2、MSH6 和 PMS2。目前其调查的适应症仍然仅限于临床怀疑散发性 UTUC 的患者，仅转介那些生殖系 DNA 测序检测呈阳性的患者来筛查这种综合征。就技术方面而言，尽管 MSI 传感器很受关注，但通常仅使用 PCR 和免疫组织化学分别对 MSI 和 dMMR 表型进行体细胞研究。 UTUC 患者中 MSI/dMMR 表型的患病率范围为 1.7% 至 57%，具体取决于研究人群、调查方法和阳性检测的定义。初次诊断时年龄较小和男女比例更加平衡是具有 MSI/dMMR 表型的 UTUC 患者的主要具体临床特征。尽管文献中存在相互矛盾的结果，但这些患者可能有更好的预后，可能与更有利的病理特征有关。最后，他们对化疗的敏感性可能较低，但对免疫治疗的敏感性较高。我们的合作审查总结了已发表的研究中探索 UTUC 患者 MSI/dMMR 表型的可用数据，其中大多数受到低水平证据的限制。© 2024 作者。 BJU International 约翰·威利 (John Wiley) 出版

To perform a collaborative review of the literature exploring the microsatellite instability/deficient mismatch repair (MSI/dMMR) phenotype in patients with upper tract urothelial carcinoma (UTUC).A collaborative review of the literature available on Medline was conducted by the Cancer Committee of the French Association of Urology to report studies describing the genetic mechanisms, investigation, prevalence and impact of the MSI/dMMR phenotype in UTUC patients.The predominant genetic mechanism leading to the MSI/dMMR phenotype in UTUC patients is related to the constitutional mutation of one allele of the MMR genes MLH1, MSH2, MSH6 and PMS2 within Lynch syndrome. Indications for its investigation currently remain limited to patients with a clinical suspicion for sporadic UTUC to refer only those with a positive testing for germline DNA sequencing to screen for this syndrome. With regard to technical aspects, despite the interest of MSIsensor, only PCR and immunohistochemistry are routinely used to somatically investigate the MSI and dMMR phenotypes, respectively. The prevalence of the MSI/dMMR phenotype in UTUC patients ranges from 1.7% to 57%, depending on the study population, investigation method and definition of a positive test. Younger age and a more balanced male to female ratio at initial diagnosis are the main specific clinical characteristics of UTUC patients with an MSI/dMMR phenotype. Despite the conflicting results available in the literature, these patients may have a better prognosis, potentially related to more favourable pathological features. Finally, they may also have lower sensitivity to chemotherapy but greater sensitivity to immunotherapy.Our collaborative review summarises the available data from published studies exploring the MSI/dMMR phenotype in UTUC patients, the majority of which are limited by a low level of evidence.© 2024 The Authors. BJU International published by John Wiley & Sons Ltd on behalf of BJU International.