Neuville Agnès, Coindre Jean-Michel, Chibon Frédéric
Inserm U916 génétique et biologie des sarcomes, département de biopathologie, institut Bergonié, 229, cours de l'Argonne, 33076 Bordeaux, France; Université de Bordeaux, 146, rue Léo-Saignat, 33000 Bordeaux, France.
Inserm U916 génétique et biologie des sarcomes, département de biopathologie, institut Bergonié, 229, cours de l'Argonne, 33076 Bordeaux, France; Université de Bordeaux, 146, rue Léo-Saignat, 33000 Bordeaux, France.
Ann Pathol. 2015 Jan;35(1):107-13. doi: 10.1016/j.annpat.2014.11.004. Epub 2014 Dec 20.
Sarcomas are a heterogeneous group of tumors. Their diagnosis is based on morphology and immunohistochemical profile, with categories of tumors according to the type of tissue that they resemble. Nevertheless, for several tumors, cellular origin is unknown. Molecular analysis performed in recent years allowed, combining histophenotype and genomics, better classifying such sarcomas, individualizing new entities and grouping some tumors. Simple and recurrent genetic alterations, such as translocation, mutation, amplification, can be identified in one of two sarcomas and appear as new diagnostic markers. Their identification in specialized laboratories in molecular pathology of sarcomas is often useful and sometimes necessary for a good diagnosis, leading to a heavy and multidisciplinary multi-step treatment.
肉瘤是一组异质性肿瘤。它们的诊断基于形态学和免疫组化特征,并根据其所相似的组织类型对肿瘤进行分类。然而,对于几种肿瘤,细胞起源尚不清楚。近年来进行的分子分析结合组织表型和基因组学,能够更好地对这类肉瘤进行分类,确定新的实体并对一些肿瘤进行分组。简单且反复出现的基因改变,如易位、突变、扩增,可在二分之一的肉瘤中被识别出来,并作为新的诊断标志物出现。在肉瘤分子病理学的专业实验室中对它们进行识别,对于准确诊断通常是有用的,有时甚至是必要的,这会导致复杂且多学科的多步骤治疗。