Department of Musculoskeletal Pathology, Royal Orthopaedic Hospital NHS Trust, Robert Aitken Institute of Clinical Research, Birmingham, UK.
Histopathology. 2014 Mar;64(4):461-76. doi: 10.1111/his.12275. Epub 2013 Oct 31.
Alongside histomorphology and immunohistochemistry, molecular pathology is now established as one of the cornerstones in the tissue diagnosis of bone tumours. We describe the principal molecular pathological techniques employed, and each of the bone tumour entities where their identified characteristic molecular pathological changes can be detected to support and confirm the suspected histological diagnosis. Tumours discussed include fibrous dysplasia, classical and subtype osteosarcomas, central and surface cartilaginous tumours, Ewing's sarcoma, vascular tumours, aneurysmal bone cyst, chordoma, myoepithelioma, and angiomatoid fibrous histiocytoma. This is a rapidly evolving field with discoveries occurring every few months, and some of the newer entities (the Ewing's-like sarcomas), which are principally identified by their molecular pathology characteristics, are discussed.
除了组织形态学和免疫组织化学，分子病理学现在也被确立为骨肿瘤组织诊断的基石之一。我们描述了主要的分子病理学技术，以及每种骨肿瘤实体中可以检测到的特征性分子病理学变化，以支持和确认可疑的组织学诊断。讨论的肿瘤包括纤维结构不良、经典型和亚型骨肉瘤、中央和表面软骨肿瘤、尤文肉瘤、血管肿瘤、动脉瘤样骨囊肿、脊索瘤、肌上皮瘤和血管样纤维组织细胞瘤。这是一个快速发展的领域，每隔几个月就会有新的发现，其中一些新的实体（尤文样肉瘤）主要通过其分子病理学特征来识别，也在本文中进行了讨论。
