Department of Pathology, Stanford University School of Medicine, Stanford, CA.
Department of Pathology, Stanford University School of Medicine, Stanford, CA.
Curr Probl Cancer. 2019 Aug;43(4):250-272. doi: 10.1016/j.currproblcancer.2019.05.006. Epub 2019 May 28.
Soft tissue sarcomas encompass a broad spectrum of histologically, clinically, and molecularly diverse neoplasms that present unique diagnostic and therapeutic challenges. Accurate classification is essential both for appropriate risk stratification and for guiding clinical management. Once classified almost exclusively based on the morphologic appearance of the tumor by light microscopy, many soft tissue sarcomas are now known to manifest recurrent patterns of genetic alterations. In addition to enabling molecular confirmation of histologic diagnoses, discovery of these recurrent genetic alterations has helped to refine existing morphologic definitions of sarcoma subtypes and even prompted the discovery of new subtypes. As therapy for sarcoma has become increasingly tailored to a specific entity, the integration of molecular data has assumed added importance in diagnostic decision making. In this article, we summarize principles of the histologic evaluation of soft tissue sarcomas, discuss specific diagnostic features of several of the most common sarcoma subtypes, and describe our vision for a future of soft tissue sarcoma diagnosis that merges morphologic, genetic, and epigenetic features to arrive at diagnoses that are aligned with tumor-specific, biologically targeted treatment approaches.
软组织肉瘤涵盖了广泛的组织学、临床和分子异质性肿瘤，这些肿瘤带来了独特的诊断和治疗挑战。准确的分类对于适当的风险分层和指导临床管理至关重要。以前，软组织肉瘤几乎完全通过光学显微镜的肿瘤形态学表现进行分类，但现在已知许多软组织肉瘤表现出反复出现的遗传改变模式。除了能够对组织学诊断进行分子确认外，这些反复出现的遗传改变的发现有助于完善肉瘤亚型的现有形态学定义，甚至促使发现新的亚型。随着肉瘤的治疗越来越针对特定的实体，分子数据的整合在诊断决策中具有更重要的意义。在本文中，我们总结了软组织肉瘤的组织学评估原则，讨论了几种最常见的肉瘤亚型的具体诊断特征，并描述了我们对未来软组织肉瘤诊断的设想，即将形态学、遗传学和表观遗传学特征融合在一起，以做出与肿瘤特异性、生物靶向治疗方法相匹配的诊断。
