Background/Objectives: Immunohistochemical expression of TRPS1 (trichorhinophalangeal syndrome type 1) protein is usually used by pathologists to confirm breast origin for triple-negative breast cancers (TNBC) or metastatic carcinomas of unknown primary. However, recent studies have reported TRPS1 expression in a variety of non-breast lesions. This review aims to provide a comprehensive evaluation of TRPS1 expression across various tumor types, highlighting both its diagnostic utility and potential pitfalls that may arise in clinical practice. Methods: A thorough search of the PubMed database on TRPS1 immunoexpression in tumor pathology was conducted. While the gene itself has been known for several decades, most studies regarding its use in immunohistochemistry emerged in the late 2010s. Particular emphasis was placed on case reports and cohort studies that examined the implications of TRPS1 expression in non-breast tissues, as well as variations in the results between commercially available TRPS1 clones, which may influence the staining intensity and specificity. Results: TRPS1 demonstrated a strong diagnostic utility in identifying primary breast lesions, particularly in TNBC cases. However, its expression in a growing number of non-breast cancers, such as lung adenocarcinoma, prostate adenocarcinoma, urothelial carcinoma, ovarian high-grade serous carcinoma, and endometrial adenocarcinoma, as well as up to 96% of synovial sarcomas with SS18-SSX fusion, emphasizes the need for caution when interpreting TRPS1 positivity and suggests a multi-marker approach in order to increase the diagnostic accuracy. Conclusions: While TRPS1 remains a highly sensible immunohistochemical marker for confirming breast primary lesions, pathologists should be aware of its low specificity and incorporate complementary diagnostic methods in order to ensure accurate clinical management. Further research should focus on elucidating the molecular pathways regulating TRPS1 expression in various tumor types, which may better define its clinical utility.
背景/目的：TRPS1（毛发-鼻-指综合征1型）蛋白的免疫组化表达通常被病理学家用于确认三阴性乳腺癌（TNBC）或原发灶不明的转移性癌的乳腺来源。然而，近期研究报道了TRPS1在多种非乳腺病变中的表达。本综述旨在全面评估TRPS1在不同肿瘤类型中的表达情况，重点探讨其诊断价值及临床实践中可能存在的潜在误区。方法：系统检索PubMed数据库中关于TRPS1在肿瘤病理学中免疫表达的相关文献。尽管该基因本身已被认知数十年，但关于其免疫组化应用的研究大多出现在2010年代末期。重点关注探讨TRPS1在非乳腺组织中表达意义的病例报告和队列研究，以及不同商业化TRPS1克隆抗体间可能导致染色强度和特异性差异的结果变异。结果：TRPS1在识别原发性乳腺病变（特别是TNBC病例）中表现出较强的诊断价值。然而，其在日益增多的非乳腺癌（如肺腺癌、前列腺腺癌、尿路上皮癌、卵巢高级别浆液性癌、子宫内膜腺癌）以及高达96%的SS18-SSX融合型滑膜肉瘤中的表达，提示在解读TRPS1阳性结果时需要保持谨慎，并建议采用多标志物联合检测策略以提高诊断准确性。结论：尽管TRPS1仍是确认乳腺原发性病变的高敏感性免疫组化标志物，病理学家应认识到其特异性较低的局限性，并整合辅助诊断方法以确保临床精准管理。未来研究应着重阐明不同肿瘤类型中调控TRPS1表达的分子通路，以更精准地界定其临床应用价值。
肿瘤(癌症)患者之家