Institute of Biomedicine, Department of Cell Biology and Anatomy, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland.
Clin Oral Investig. 2012 Apr;16(2):551-8. doi: 10.1007/s00784-011-0519-x. Epub 2011 Feb 8.
Our aim was to characterize the type and frequency of oral soft tissue alterations in neurofibromatosis. A total of 103 patients with neurofibromatosis 1 (NF1) and three patients with neurofibromatosis 2 (NF2) were clinically evaluated for their oral soft tissue alterations. Disturbing growths were removed from nine patients with NF1 and from one patient with NF2. The specimens were analyzed using routine histological methods and with immunohistochemistry using antibodies to S100, type IV collagen, CD34, neurofilament, and neuron-specific tubulin (TUBB3). Alterations including oral tumors, overgrowths of gingival soft tissue, and enlarged papillae of the tongue were discovered in 74% of NF1 patients. The results showed that three tumors clinically classified as plexiform neurofibromas and five out of six discrete mucosal tumors displayed histology and immunohistology consistent with that of neurofibroma. The histology of one palatal lesion resembled that of a scar, and the lesion removed from the patient with NF2 was classified as an amyloid tumor. To conclude, oral soft tissue growths are common findings in NF1, but most lesions do not require treatment and the patients may even not be aware of these alterations. Collagen IV, S100, and CD34 are useful biomarkers in the analysis of NF1-related oral soft tissue tumors. The clinicians should recognize that oral soft tissue alterations are relatively common in NF1. Some of the growths are disturbing, and plexiform neurofibromas may bear a risk of malignant transformation.
我们的目的是描述神经纤维瘤病中口腔软组织改变的类型和频率。共对 103 例神经纤维瘤病 1 型（NF1）患者和 3 例神经纤维瘤病 2 型（NF2）患者进行了口腔软组织改变的临床评估。从 9 例 NF1 患者和 1 例 NF2 患者中切除了令人不安的生长物。使用常规组织学方法和 S100、IV 型胶原、CD34、神经丝和神经元特异性微管蛋白（TUBB3）抗体的免疫组织化学方法分析了标本。在 74%的 NF1 患者中发现了包括口腔肿瘤、牙龈软组织过度生长和舌乳头增大在内的改变。结果表明，临床上分类为丛状神经纤维瘤的三个肿瘤和六个离散粘膜肿瘤中的五个在组织学和免疫组织化学上均与神经纤维瘤一致。一个腭部病变的组织学类似于疤痕，而从 NF2 患者中切除的病变被归类为淀粉样瘤。总之，口腔软组织生长在 NF1 中很常见，但大多数病变不需要治疗，患者甚至可能没有意识到这些改变。IV 型胶原、S100 和 CD34 是分析 NF1 相关口腔软组织肿瘤的有用生物标志物。临床医生应认识到 NF1 中口腔软组织改变较为常见。一些生长物令人不安，丛状神经纤维瘤可能有恶性转化的风险。
