Friedrich Reinhard E, Kohlrusch Felix K, Hagel Christian
Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
Institute of Neuropathology, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
Cancer Diagn Progn. 2025 May 3;5(3):330-343. doi: 10.21873/cdp.10445. eCollection 2025 May-Jun.
BACKGROUND/AIM: Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome and a bone disease. Dystrophic facial skull often is topographically related to diffuse neurofibromas (DNFs). The report traces the diagnosis and treatment of an oral DNF that was registered in adolescence and describes associated bone findings. The aim of the investigation was to illustrate and specify the interplay of tumor-associated and dysmorphic changes of the facial skull in NF1.
This 14-year-old patient with NF1 had developed a solid tumor arising from the mandibular anterior lingual alveolar process. Histological examination of the tumor identified a DNF. Imaging showed a funnel-shaped vertical defect of the alveolar process between incisors, asymmetry of bony chin and vertical position of mental foramina. The chin showed irregular, bi-cortical connected bone canals suspected to indicate enlarged neurovascular channels. Thirteen years later, the patient developed a local tumor recurrence (DNF). Meanwhile, the anterior bone defect had become larger. However, the bony chin appeared considerably sclerosed. In contrast, mandibular shape and surface were unchanged.
DNF can affect the position of teeth, invade the bone, and cause enlarged bone channels. Surface erosion and trophic effects of the mandible may arise adjacent to the neurogenic lesion. DNF of the oral cavity can recur. It is becoming apparent that the tumor-associated skeletal and dental changes in the mandible correlate with the time of development of the peripheral nerve sheath tumor. The findings could be useful as indications for an expanded tumor search in the affected area.
背景/目的：1型神经纤维瘤病（NF1）是一种肿瘤易感综合征和骨病。营养不良性面部颅骨通常在地形上与弥漫性神经纤维瘤（DNF）相关。本报告追踪了一例青春期确诊的口腔DNF的诊断和治疗过程，并描述了相关的骨骼发现。本研究的目的是阐明并明确NF1中面部颅骨肿瘤相关变化和畸形变化之间的相互作用。
这位14岁的NF1患者下颌前舌侧牙槽突出现了一个实体瘤。肿瘤的组织学检查确诊为DNF。影像学检查显示，切牙之间的牙槽突呈漏斗状垂直缺损，骨性颏不对称，颏孔垂直移位。颏部可见不规则的、双皮质相连的骨管，怀疑提示神经血管通道增宽。13年后，患者出现局部肿瘤复发（DNF）。与此同时，前部骨缺损变大。然而，骨性颏明显硬化。相比之下，下颌骨的形状和表面未发生改变。
DNF可影响牙齿位置，侵犯骨质，并导致骨通道增宽。下颌骨表面侵蚀和营养改变可能出现在神经源性病变附近。口腔DNF可复发。越来越明显的是，下颌骨中与肿瘤相关的骨骼和牙齿变化与周围神经鞘瘤的发生时间相关。这些发现可作为在受影响区域扩大肿瘤筛查范围的指征。
