Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.
College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Ann Diagn Pathol. 2020 Aug;47:151532. doi: 10.1016/j.anndiagpath.2020.151532. Epub 2020 Apr 28.
When investigating patients with a suspected neuromuscular disorder, a muscle biopsy is considered an instrumental tool to reach a definitive diagnosis. There is a paucity of publications that assess the diagnostic utilization and yield of muscle biopsies. We intend to present our experience in this regard over an extended period of more than three decades.
This is an observational retrospective cohort study in which we collected pathology reports for muscle biopsies diagnosed at our reference lab between 1986 and 2017.
We identified a total of 461 cases of muscle biopsy performed, which fulfilled the inclusion criteria. Pediatric cases defined as ≤14 years of age constituted a significant proportion of cases (n = 275, 60%). Normal biopsies were reported in 27% of cases (n = 124), and in 4%, the biopsies were non-diagnostic. The most common pathologies reported were non-specific myopathy (n = 72, 16%), dystrophy (n = 71, 15%), and neurogenic disorders (n = 60, 13%).
In conclusion, the muscle biopsy will continue to play a crucial role, as a gold standard or as a complementary investigation, in the diagnosis of certain neuromuscular disorders. Increasing the yield and accuracy of muscle pathology should be the main concern and priority to neuropathologists reporting muscle biopsies. In addition, utilizing next-generation sequencing and other molecular techniques have changed the location of muscle biopsy in the algorithm of the diagnosis of neuromuscular disorders. This paper is an urgent call to establish the Saudi Neuropathology Society and the muscle pathology and neuromuscular disorders registry.
在调查疑似神经肌肉疾病患者时，肌肉活检被认为是确定诊断的重要工具。目前，评估肌肉活检的诊断应用和效果的文献较少。我们旨在展示我们在这方面三十多年的经验。
这是一项观察性回顾性队列研究，我们收集了我们的参考实验室在 1986 年至 2017 年间诊断的肌肉活检的病理报告。
我们共确定了 461 例符合纳入标准的肌肉活检病例。儿科病例（定义为≤14 岁）占很大比例（n=275，60%）。27%的病例（n=124）报告为正常活检，4%的病例为非诊断性活检。报告的最常见病理为非特异性肌病（n=72，16%）、肌营养不良症（n=71，15%）和神经源性疾病（n=60，13%）。
总之，肌肉活检将继续作为金标准或补充检查，在某些神经肌肉疾病的诊断中发挥重要作用。提高肌肉病理学的产量和准确性应是神经病理学家报告肌肉活检的主要关注点和优先事项。此外，下一代测序和其他分子技术的应用已经改变了肌肉活检在神经肌肉疾病诊断算法中的位置。本文紧急呼吁成立沙特神经病理学会和肌肉病理与神经肌肉疾病登记处。
