Department of Pathology, Azienda Ospedale Università Padova, Padova, Italy.
Department of Medicine, University of Padua School of Medicine, Padua, Italy.
Pathologica. 2021 Apr;113(2):70-84. doi: 10.32074/1591-951X-213. Epub 2020 Nov 3.
Mesenchymal tumours represent one of the most challenging field of diagnostic pathology and refinement of classification schemes plays a key role in improving the quality of pathologic diagnosis and, as a consequence, of therapeutic options. The recent publication of the new WHO classification of Soft Tissue Tumours and Bone represents a major step toward improved standardization of diagnosis. Importantly, the 2020 WHO classification has been opened to expert clinicians that have further contributed to underline the key value of pathologic diagnosis as a rationale for proper treatment. Several relevant advances have been introduced. In the attempt to improve the prediction of clinical behaviour of solitary fibrous tumour, a risk assessment scheme has been implemented. NTRK-rearranged soft tissue tumours are now listed as an "emerging entity" also in consideration of the recent therapeutic developments in terms of NTRK inhibition. This decision has been source of a passionate debate regarding the definition of "tumour entity" as well as the consequences of a "pathology agnostic" approach to precision oncology. In consideration of their distinct clinicopathologic features, undifferentiated round cell sarcomas are now kept separate from Ewing sarcoma and subclassified, according to the underlying gene rearrangements, into three main subgroups (CIC, BCLR and not ETS fused sarcomas) Importantly, In order to avoid potential confusion, tumour entities such as gastrointestinal stroma tumours are addressed homogenously across the different WHO fascicles. Pathologic diagnosis represents the integration of morphologic, immunohistochemical and molecular characteristics and is a key element of clinical decision making. The WHO classification is as a key instrument to promote multidisciplinarity, stimulating pathologists, geneticists and clinicians to join efforts aimed to translate novel pathologic findings into more effective treatments.
间质肿瘤是诊断病理学中极具挑战性的领域之一,分类方案的细化对于提高病理诊断质量至关重要,进而影响治疗选择。最近发布的新版《软组织肿瘤和骨肿瘤WHO 分类》是朝着提高诊断标准化迈出的重要一步。重要的是,2020 年版 WHO 分类向专家临床医生开放,他们进一步强调了病理诊断作为合理治疗的关键价值。引入了一些相关进展。为了提高孤立性纤维瘤临床行为的预测能力,实施了风险评估方案。NTRK 重排的软组织肿瘤现在被列为“新兴实体”,这也是考虑到最近在 NTRK 抑制方面的治疗进展。这一决定引发了一场关于“肿瘤实体”定义以及对精准肿瘤学“病理学无认知”方法的后果的激烈辩论。考虑到其独特的临床病理特征,未分化小圆细胞肉瘤现在与尤文肉瘤分开,并根据潜在的基因重排分为三个主要亚组(CIC、BCLR 和非 ETS 融合肉瘤)。重要的是,为了避免潜在的混淆,胃肠道间质肿瘤等肿瘤实体在不同的 WHO 分册中得到了统一处理。病理诊断是形态学、免疫组织化学和分子特征的综合,是临床决策的关键要素。WHO 分类是促进多学科的重要工具,它鼓励病理学家、遗传学家和临床医生共同努力,将新的病理发现转化为更有效的治疗方法。