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.
肉瘤的精确分类对于优化临床管理至关重要。在本项由希腊肉瘤与罕见癌症研究组（HGSRC）开展的前瞻性、多中心、观察性研究中，我们评估了专家病理会诊结合分子诊断技术对肉瘤患者诊断和治疗的影响。新确诊的肉瘤患者经主治医师转诊至HGSRC两位肉瘤病理专家之一进行组织病理学诊断评估。所有样本均采用靶向86种肉瘤基因融合的检测平台进行RNA新一代测序。根据专家病理学家的判断，必要时辅以其他分子检测方法。最终，专家病理学家基于组织病理学发现及必要的分子检测结果给出最终诊断。研究共评估了122名患者的128份标本。在119例由非肉瘤专科病理医师提供初步诊断的病例中，肉瘤病理专家修正了37例（31.1%）诊断，其中17例（14.2%）因此改变了治疗方案。在110例接受分子检测的病例中，基因组检测结果修正了29例（26.4%）诊断，其中12例（10.9%）因此调整了治疗方案。本研究证实，专家病理会诊对实现肉瘤精准诊疗至关重要，特定病例应辅以分子检测技术予以支持。
肿瘤(癌症)患者之家