Department of Pathology, UT Southwestern Medical Center, Dallas, TX, USA.
Departments of Pathology and Laboratory Medicine, and Neurology, Alpert Medical School of Brown University, Providence, RI, USA.
Mod Pathol. 2019 Apr;32(4):462-483. doi: 10.1038/s41379-018-0164-x. Epub 2018 Nov 6.
The interpretation of muscle biopsies is complex and provides the most useful information when integrated with the clinical presentation of the patient. These biopsies are performed for workup of a wide range of diseases including dystrophies, metabolic diseases, and inflammatory processes. Recent insights have led to changes in the classification of inflammatory myopathies and have changed the role that muscle biopsies have in the workup of inherited diseases. These changes will be reviewed. This review follows a morphology-driven approach by discussing diseases of skeletal muscle based on a few basic patterns that include cases with (1) active myopathic damage and inflammation, (2) active myopathic damage without associated inflammation, (3) chronic myopathic changes, (4) myopathies with distinctive inclusions or vacuoles, (5) biopsies mainly showing atrophic changes, and (6) biopsies that appear normal on routine preparations. Each of these categories goes along with certain diagnostic considerations and pitfalls. Individual biopsy features are only rarely pathognomonic. Establishing a firm diagnosis therefore typically requires integration of all of the biopsy findings and relevant clinical information. With this approach, a muscle biopsy can often provide helpful information in the diagnostic workup of patients presenting with neuromuscular problems.
肌肉活检的解读较为复杂，当与患者的临床表现相结合时，才能提供最有用的信息。这些活检是为广泛的疾病（包括肌营养不良症、代谢疾病和炎症过程）的检查而进行的。最近的研究进展导致了炎症性肌病分类的改变，并改变了肌肉活检在遗传性疾病检查中的作用。这些变化将在本文中进行综述。本文采用形态学驱动的方法，根据一些基本模式讨论骨骼肌疾病，包括：（1）活跃的肌病性损伤和炎症；（2）活跃的肌病性损伤而无相关炎症；（3）慢性肌病性改变；（4）具有特征性包涵体或空泡的肌病；（5）主要表现为萎缩性改变的活检；（6）常规检查显示正常的活检。这些类别中的每一个都伴随着某些诊断注意事项和陷阱。单个活检特征很少具有特征性。因此，确立明确的诊断通常需要整合所有的活检结果和相关的临床信息。通过这种方法，肌肉活检通常可以为出现神经肌肉问题的患者的诊断检查提供有帮助的信息。
