Department of Neurosurgery, Mayo Clinic, 200 1st St. SW, Rochester, MN, 55905, USA.
Department of Radiology, Mayo Clinic, 200 1st St. SW, Rochester, MN, 55905, USA.
Acta Neurochir (Wien). 2020 May;162(5):1137-1146. doi: 10.1007/s00701-019-04178-8. Epub 2020 Jan 2.
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.
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.
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.
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.
神经肌肉性错构瘤（NMC）相关的韧带样纤维瘤病（DFT）常发生于神经肌肉性错构瘤患者。我们假设 NMC 相关的 DFT 发生于受 NMC 影响的神经支配的软组织中，起源于 NMC 内或紧邻 NMC 的 CTNNB1 突变（肌）成纤维细胞。
对在我院接受治疗的经活检证实为 NMC-DFT 的患者进行回顾性研究。分析了患者的临床表现、体格检查、电诊断结果和影像学特征（每例 NMC-DFT 的 MRI 和 FDG PET/CT 图像）以及现有材料的病理再复查结果。还进行了文献复习。
我院有 8 名患者符合纳入标准。所有患者均出现神经病变症状和 NMC 支配区域的软组织或骨改变。所有 MRI 图像（8 例）均显示 NMC 的特征性表现，且还显示单发（5 例）或多发（3 例）DFT 与 NMC 受累神经 NMC 之间的直接接触。FDG PET/CT（2 例）显示受累神经节段的整个部位弥漫性、FDG 摄取增加，与 FDG 摄取活跃的 DFT 连续。在所有病例中，DFT 均发生在 NMC 受累神经的软组织中。没有患者在其他解剖部位发生 DFT。
这些数据表明，NMC-DFT 仅发生于 NMC 受累神经的区域内，且与 NMC 本身直接接触。基于所有这些发现以及在几例患者中 NMC 的多灶性，我们建议对整个 NMC 受累神经（从脊柱到远端肢体）进行成像和监测，以识别 NMC 患者中隐匿性的 DFT。
