肉瘤的精确分类对于最佳临床管理至关重要。在希腊肉瘤和罕见癌症研究组 (HGSRC) 的这项前瞻性、多中心、观察性研究中，我们评估了专家病理学审查以及分子诊断应用对肉瘤患者诊断和治疗的效果。新诊断的肉瘤患者由医生向 HGSRC 的两名肉瘤病理学家之一进行组织病理学诊断评估。使用针对 86 个肉瘤基因融合的平台对所有样本进行了 RNA 新一代测序。根据病理学家专家的意见进行了其他分子方法。因此，病理学家专家根据组织病理学结果以及必要时的分子检测提供了最终诊断。总共评估了 122 名患者的 128 份样本。在由非肉瘤病理学家初步诊断的 119 例病例中，肉瘤病理学家对诊断进行了 37 次修改（31.1%），导致治疗上有 17 次修改（14.2%）。在进行分子检测的 110 例病例中，通过基因组结果对诊断进行了 29 项修改（26.4%），导致管理方面进行了 12 项修改（10.9%）。我们的研究证实，专家病理学审查对于最佳肉瘤诊断和治疗至关重要，并且应在选定的病例中得到分子方法的协助。

Precise classification of sarcomas is crucial to optimal clinical management. In this prospective, multicenter, observational study within the Hellenic Group of Sarcoma and Rare Cancers (HGSRC), we assessed the effect of expert pathology review, coupled with the application of molecular diagnostics, on the diagnosis and management of sarcoma patients. Newly diagnosed sarcoma patients were addressed by their physicians to one of the two sarcoma pathologists of HGSRC for histopathological diagnostic assessment. RNA next-generation sequencing was performed on all samples using a platform targeting 86 sarcoma gene fusions. Additional molecular methods were performed in the opinion of the expert pathologist. Therefore, the expert pathologist provided a final diagnosis based on the histopathological findings and, when necessary, molecular tests. In total, 128 specimens from 122 patients were assessed. Among the 119 cases in which there was a preliminary diagnosis by a non-sarcoma pathologist, there were 37 modifications in diagnosis (31.1%) by the sarcoma pathologist, resulting in 17 (14.2%) modifications in management. Among the 110 cases in which molecular tests were performed, there were 29 modifications in diagnosis (26.4%) through the genomic results, resulting in 12 (10.9%) modifications in management. Our study confirms that expert pathology review is of utmost importance for optimal sarcoma diagnosis and management and should be assisted by molecular methods in selected cases.