Department of Histopathology, Royal National Orthopaedic Hospital NHS Trust, Stanmore, Middlesex, HA7 4LP, UK.
Skeletal Radiol. 2010 Feb;39(2):105-15. doi: 10.1007/s00256-009-0759-x.
Bone and soft tissue metabolic and neoplastic diseases are increasingly characterized by their molecular signatures. This has resulted from increased knowledge of the human genome, which has contributed to the unraveling of molecular pathways in health and disease. Exploitation of this information has allowed it to be used for practical diagnostic purposes. The aim of the first part of this two-part review is to provide an up-to-date review of molecular genetic investigations that are available and routinely used by specialist musculoskeletal histopathologists in the diagnosis of neoplastic disease. Herein we focus on the benefits of employing well characterized somatic mutations in soft tissue lesions that are commonly employed in diagnostic pathology today. The second part highlights the known somatic and germline mutations implicated in osteoclast-rich lesions of bone, and the genetic changes that disturb phosphate metabolism and result in a variety of musculoskeletal phenotypes. Finally, a brief practical guide of how to use and provide a molecular pathology service is given.
骨和软组织代谢及肿瘤性疾病的特征越来越多地与其分子特征有关。这是由于人类基因组知识的增加，这有助于揭示健康和疾病中的分子途径。对这些信息的利用使其可用于实际的诊断目的。本综述两部分的第一部分旨在提供最新的综述，介绍专门从事肌肉骨骼组织病理学家在诊断肿瘤性疾病时可获得和常规使用的分子遗传学研究。在这里，我们重点介绍了在当今诊断病理学中常用的软组织病变中具有良好特征的体细胞突变的优势。第二部分重点介绍了与富含破骨细胞的骨病变相关的已知体细胞和种系突变，以及扰乱磷酸盐代谢并导致各种肌肉骨骼表型的遗传变化。最后，简要介绍了如何使用和提供分子病理学服务的实用指南。
