Roessner Albert, Franke Sabine, Schreier Julian, Ullmann Sarah R, Karras Franziska S
Institute of Pathology, Otto-von-Guericke University Magdeburg, Leipziger Str. 44, 39120 Magdeburg, Germany.
Diagnostics (Basel). 2025 May 28;15(11):1355. doi: 10.3390/diagnostics15111355.
A histological evaluation remains the cornerstone of diagnosing highly malignant osteosarcoma, having demonstrated its efficacy and reliability over several decades. However, despite these advancements, misdiagnoses with severe consequences, including inadequate surgical procedures, continue to occur. Consequently, there is a pressing need to further enhance diagnostic security. Adjunct immunohistochemical approaches have demonstrated significant effectiveness in regard to cancer diagnostics, generally. However, their utility for identifying highly malignant osteosarcoma is limited. Molecular genetic findings have significantly improved the diagnosis of Ewing's sarcoma by identifying specific translocations and have been used to detect specific gene mutations in chondrosarcoma. Nevertheless, molecular genetic alterations in highly malignant osteosarcoma exhibit a high degree of complexity, thereby limiting their diagnostic utility. Given that only 1-2% of the human genome comprises protein-coding sequences, the growing number of non-coding regulatory RNAs, which are increasingly being elucidated, has garnered substantial attention in the field of clinical cancer diagnostics. Over the past several years, patterns of altered non-coding RNA expression have been identified that facilitate the distinction between benign and malignant tumors in various organs. In the field of bone tumors, the experience of this approach has been limited thus far. The divergent expression of microRNAs has demonstrated utility for differentiating osteosarcoma from osteoblastoma and discriminating between osteosarcoma and giant-cell tumors of bone and fibrous dysplasia. However, the application of non-coding RNA expression patterns for the differential diagnosis of osteosarcoma is still in its preliminary stages. This review provides an overview of the current status of non-coding RNAs in osteosarcoma diagnostics, in conjunction with a histological evaluation. The potential of this approach is discussed comprehensively.
组织学评估仍然是诊断高恶性骨肉瘤的基石,几十年来已证明其有效性和可靠性。然而,尽管有这些进展,包括手术操作不当在内的后果严重的误诊仍时有发生。因此,迫切需要进一步提高诊断的准确性。一般来说,辅助免疫组化方法在癌症诊断方面已显示出显著效果。然而,它们在识别高恶性骨肉瘤方面的效用有限。分子遗传学研究结果通过识别特定易位显著改善了尤因肉瘤的诊断,并已用于检测软骨肉瘤中的特定基因突变。然而,高恶性骨肉瘤中的分子遗传学改变表现出高度复杂性,从而限制了它们的诊断效用。鉴于人类基因组中只有1-2%由蛋白质编码序列组成,越来越多的非编码调节RNA不断被阐明,这在临床癌症诊断领域引起了广泛关注。在过去几年中,已发现非编码RNA表达改变的模式有助于区分各种器官中的良性和恶性肿瘤。在骨肿瘤领域,到目前为止这种方法的经验有限。微小RNA的差异表达已显示出在区分骨肉瘤和成骨细胞瘤以及鉴别骨肉瘤与骨巨细胞瘤和骨纤维发育不良方面的效用。然而,非编码RNA表达模式在骨肉瘤鉴别诊断中的应用仍处于初步阶段。本综述结合组织学评估概述了非编码RNA在骨肉瘤诊断中的现状,并全面讨论了这种方法的潜力。