INTRODUCTION Desmoid-type fibromatosis (DTF) frequently arises in patients with neuromuscular choristoma (NMC). We hypothesize that NMC-associated DTF occurs in soft tissues innervated by the NMC-affected nerve, and arises from CTNNB1-mutated (myo) fibroblasts within or directly adjacent to the NMC. MATERIALS AND METHODS A retrospective review of patients treated at our institution was performed for patients with biopsy-confirmed diagnosis of NMC-DTF. Clinical presentation, physical examination, electrodiagnostic findings and radiological features (MR and FDG PET/CT images for each NMC-DTF) and pathologic re-review of available materials were analyzed. A literature review was also performed. RESULTS Eight patients from our institution met the inclusion criteria. All patients presented with neuropathic symptoms and soft tissue or bone changes in the nerve territory innervated by the NMC. All MR images (N=8 cases) showed the characteristic features of NMC, and also showed direct contact between unifocal (N=5) or multifocal (N=3) DTF(s) and the NMC-affected nerve NMC. FDG PET/CT (N=2 cases) showed diffuse, increased FDG uptake along the entire affected nerve segment, contiguous with the FDG-avid DTF. In all cases, the DTFs arose in the soft tissues of the NMC-affected nerve's territory. No patient developed DTF at any other anatomic site. CONCLUSIONS These data demonstrate that NMC-DTF arises solely within the NMC-affected nerve territory, and has direct contact with the NMC itself. Based on all these findings and the multifocality of NMC in several cases, we recommend imaging and surveillance of the entire NMC-affected nerve (from spine to distal extremity) to identify clinically-occult DTF in patients with NMC.

中文翻译：

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神经肌肉绒毛膜瘤相关的类胶质纤维瘤病：建立神经区域的概念。

引言类神经纤维性纤维瘤病（DTF）经常出现在神经肌肉胆管瘤（NMC）患者中。我们假设与NMC相关的DTF发生在受NMC影响的神经支配的软组织中，并且由NMC内或与NMC直接相邻的CTNNB1突变（肌）成纤维细胞引起。材料与方法对本院接受活检确诊为NMC-DTF的患者进行回顾性回顾。分析了临床表现，体格检查，电诊断结果和放射学特征（每个NMC-DTF的MR和FDG PET / CT图像）以及对可用材料的病理学复查。还进行了文献综述。结果我们机构的八名患者符合纳入标准。所有患者在NMC支配的神经区域均出现神经病变症状和软组织或骨骼变化。所有MR图像（N = 8例）均显示NMC的特征，并且还显示单焦点（N = 5）或多焦点（N = 3）DTF与受NMC影响的神经NMC直接接触。FDG PET / CT（N = 2例）显示沿整个受影响的神经节弥散，增加了FDG摄取，与FDG-avid DTF相邻。在所有情况下，DTF都出现在受NMC影响的神经区域的软组织中。没有患者在其他任何解剖部位出现DTF。结论这些数据表明NMC-DTF仅出现在受NMC影响的神经区域内，并且与NMC本身直接接触。基于所有这些发现以及NMC在多种情况下的多焦点性，