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Abstract：
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.
摘要：
肉瘤的精确分类对于最佳临床治疗至关重要。在这个前景中，多中心，希腊肉瘤和罕见癌症组（HGSRC）内的观察性研究，我们评估了专家病理学审查的效果，加上分子诊断的应用，肉瘤患者的诊断和治疗。医生将新诊断的肉瘤患者交给HGSRC的两名肉瘤病理学家之一进行组织病理学诊断评估。使用靶向86个肉瘤基因融合体的平台对所有样品进行RNA下一代测序。根据专家病理学家的意见进行了其他分子方法。因此,专家病理学家根据组织病理学发现提供了最终诊断，必要时,分子测试。总的来说,对来自122名患者的128个样本进行了评估。在119例由非肉瘤病理学家初步诊断的病例中，肉瘤病理学家对诊断进行了37次修改（31.1％），导致17（14.2%）的管理变化。在进行分子检测的110例病例中，通过基因组结果，诊断有29次修改(26.4%)，导致12（10.9%）的管理修改。我们的研究证实，专家病理学审查对于最佳的肉瘤诊断和治疗至关重要，在某些情况下应通过分子方法进行辅助。
