Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Pathology. 2018 Jan;50(1):37-48. doi: 10.1016/j.pathol.2017.07.007. Epub 2017 Sep 23.
Soft tissue tumours are relatively rare, but are diagnostically challenging as they comprise a large spectrum of diagnostic entities. Substantial advances have been made in recent years in identifying the underlying recurrent chromosomal and genomic alterations in a significant subset of soft tissue tumours, and this continues to enrich our understanding of the biological mechanisms of tumour development and progression. Ongoing validation and integration of these findings into existing pathological-diagnostic algorithms has led to re- or subclassification of diagnostic categories and will continue to shape a more nuanced (and hopefully clinically relevant) tumour classification system in the future. This review provides a selective overview of recent diagnostic or conceptual advances in the categories of peripheral nerve sheath tumours, vascular and adipocytic tumours, round cell and myogenic sarcomas, and gastrointestinal stromal tumours, as well as their underlying molecular mechanisms, some of which have been translated successfully into useful immunohistochemical stains. A thorough and critical validation of newly identified diagnostic markers-acknowledging the fact that some genetic alterations may not necessarily be tumour-specific-and ongoing correlation with clinical and prognostic implications will be necessary in this regard.
软组织肿瘤相对少见,但诊断具有挑战性,因为它们包含广泛的诊断实体。近年来,在相当一部分软组织肿瘤中,识别潜在的复发性染色体和基因组改变方面取得了重大进展,这不断丰富了我们对肿瘤发生和发展的生物学机制的理解。对这些发现的持续验证和整合到现有的病理诊断算法中,导致了诊断类别重新分类或细分,并将继续塑造未来更细致入微(希望具有临床相关性)的肿瘤分类系统。这篇综述选择性地概述了外周神经鞘瘤、血管和脂肪性肿瘤、圆形细胞和肌源性肉瘤以及胃肠道间质瘤等类别的最新诊断或概念上的进展,以及它们的潜在分子机制,其中一些已经成功转化为有用的免疫组织化学染色。在这方面,需要对新确定的诊断标志物进行彻底和批判性的验证——承认某些遗传改变不一定是肿瘤特异性的,并持续与临床和预后意义相关联。