Pediatric Surgery, University of Texas Southwestern Medical Center, Dallas, Texas.
Pediatric Surgery, Children's Medical Center, Dallas, Texas; Neurology, University of Texas Southwestern Medical Center, Dallas, Texas.
J Surg Res. 2019 Nov;243:27-32. doi: 10.1016/j.jss.2019.04.085. Epub 2019 May 28.
An operative biopsy is an important component in the diagnosis and treatment of neuromuscular disorders (NMDs). However, recent advances in molecular genetics suggest less invasive genetic testing should be the initial approach. The purpose of our study was to demonstrate the diagnostic value of muscle or nerve biopsy within the pediatric population at a pediatric academic center and offer recommendations for genetic testing in relation to biopsy to achieve the highest diagnostic yield.
Following institutional review board approval, we retrospectively reviewed the electronic medical record of 221 pediatric patients who underwent muscle and/or nerve biopsy for suspicion of NMD from January 2007 to March 2018. Demographics, family history, clinical presentations, genetic testing results, pathology results, anesthesia complications, clinical diagnoses, and clinic follow-up data were collected. Chi-square analysis was done for statistical significance.
A total of 220 underwent muscle biopsy, and 15 underwent nerve biopsy. Not all patients received genetic testing. The average age at biopsy was 7.7 y. Biopsy revealed significant histologic abnormalities in 62.9% (139), directly leading to a specific clinical diagnosis in 33.9% (75). When genetic testing was done before biopsy, definite pathogenic variants were found in 7.6% (9). When genetic testing was done after biopsy, definite pathogenic variants were found in 45.0% (27). Genetic testing yield for pathogenic variants was higher when done after biopsy (P value < 0.00001).
Muscle and nerve biopsies may provide significant diagnostic value. Biopsy helped to rule in or out NMD and guide genetic testing. Our data suggest NMD genetic testing yield was higher when done after biopsy.
活组织检查是神经肌肉疾病（NMD）诊断和治疗的重要组成部分。然而，分子遗传学的最新进展表明，侵入性较小的基因检测应该是初始方法。我们的研究目的是在儿科学术中心的儿科人群中展示肌肉或神经活检的诊断价值，并就活检相关的基因检测提出建议，以实现最高的诊断效果。
在获得机构审查委员会批准后，我们回顾性地分析了 2007 年 1 月至 2018 年 3 月期间因疑似 NMD 而在我院接受肌肉和/或神经活检的 221 例儿科患者的电子病历。收集了人口统计学、家族史、临床表现、基因检测结果、病理结果、麻醉并发症、临床诊断和临床随访数据。进行了卡方检验以确定统计学意义。
共有 220 例患者接受了肌肉活检，15 例患者接受了神经活检。并非所有患者都接受了基因检测。活检时的平均年龄为 7.7 岁。活检显示 62.9%（139 例）存在显著的组织学异常，直接导致 33.9%（75 例）特定的临床诊断。在活检前进行基因检测时，发现明确的致病性变异占 7.6%（9 例）。在活检后进行基因检测时，发现明确的致病性变异占 45.0%（27 例）。活检后进行基因检测时，致病性变异的检测率更高（P 值<0.00001）。
肌肉和神经活检可能具有重要的诊断价值。活检有助于排除或确定 NMD，并指导基因检测。我们的数据表明，活检后进行 NMD 基因检测的阳性率更高。
