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179例1型神经纤维瘤病相关面部及邻近头部区域丛状神经纤维瘤：病变部位及手术治疗数据

Neurofibromatosis Type 1-Associated Plexiform Neurofibromas of the Face and Adjacent Head Regions: Topography of Lesions and Surgical Treatment Data of 179 Patients.

作者信息

Friedrich Reinhard E, Modemann Manuel

机构信息

Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Martinistraße 52, 20246 Hamburg, Germany.

出版信息

J Maxillofac Oral Surg. 2023 Sep;22(3):511-524. doi: 10.1007/s12663-022-01838-8. Epub 2023 Jan 19.

DOI:10.1007/s12663-022-01838-8
PMID:37534339
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10390432/
Abstract

INTRODUCTION: Facial plexiform neurofibromas (FPNF) are rare tumors frequently diagnosed in patients with neurofibromatosis type 1 (NF1), a tumor predisposition syndrome. FPNF often grows invasively and destructively, which may complicate surgical treatment. Data on the frequency, location, and surgical procedures of patients with NF1-associated FPNF are scarce. This study provides treatment data from a nationally networked reference center for the treatment of NF1 patients. MATERIAL AND METHODS: The localization and treatment data of 179 NF1 patients with FPNF were analyzed. Photographically documented tumors of the study area, further determined by imaging, were manually transferred to a facial scheme and digitized. The digitized registrations of the facial extensions of the tumors of each patient were overlaid in a single image (Photoshop™), so that the file of the facial scheme contained the sum of the tumor localization. Finally, the frequency of tumor localization was indicated with a color code. The frequency of tumor extension-related coded colors was applied to outline the lesions' topography on schematic face drawings (heat map). RESULTS: The distribution of the tumors showed no side preference. The need for the treatment of patients with orbital/periorbital manifestations became evident in the graphic representations. Tumors do not respect anatomical units. However, the classification of the face according to dermatomes, especially the trigeminal nerve, offers indications of tumor spread and guides treatment planning. The mean number of surgical measures per patient was 2.21 (median: 1). Extensive swelling, hematoma, and delayed wound healing were all common postoperative complications. CONCLUSION: The color-coded, schematic overview of the frequency distribution of cutaneous tumor spread in NF1 patients with FPNF illustrates the importance of orbital/periorbital and cheek tumor manifestations in patients' treatment needs. The imaging procedure is suitable for controlling natural tumor growth in the same way as the documentation of the post-surgical course. Repeated interventions in the region are included in surgical planning of the progressing tumor disease.

摘要

引言：面部丛状神经纤维瘤（FPNF）是一种罕见肿瘤，常出现在患有1型神经纤维瘤病（NF1）这一肿瘤易感综合征的患者中。FPNF通常呈浸润性和破坏性生长，这可能使手术治疗变得复杂。关于NF1相关FPNF患者的发病频率、位置及手术方式的数据较为匮乏。本研究提供了来自一个全国联网的NF1患者治疗参考中心的治疗数据。 材料与方法：分析了179例患有FPNF的NF1患者的定位及治疗数据。研究区域内经照片记录且经影像学进一步确定的肿瘤，被手动转移至面部示意图并数字化。将每位患者肿瘤面部扩展的数字化记录叠加在一张图像（Photoshop™）中，这样面部示意图文件就包含了肿瘤定位的总和。最后，用颜色编码表示肿瘤定位的频率。将与肿瘤扩展相关的编码颜色频率应用于在面部示意图（热图）上勾勒病变的地形。 结果：肿瘤分布无左右侧偏好。在图形表示中，眼眶/眶周表现患者的治疗需求变得明显。肿瘤并不受解剖单位的限制。然而，根据皮节对面部进行分类，尤其是三叉神经，可为肿瘤扩散提供线索并指导治疗规划。每位患者的平均手术次数为2.21次（中位数：1次）。广泛肿胀、血肿及伤口愈合延迟均为常见的术后并发症。 结论：对患有FPNF的NF1患者皮肤肿瘤扩散频率分布进行颜色编码的示意图概述，说明了眼眶/眶周及颊部肿瘤表现在患者治疗需求中的重要性。成像程序适用于控制肿瘤的自然生长，其方式与记录术后病程相同。对进展性肿瘤疾病的手术规划中包括对该区域的重复干预。

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Neurofibromatosis Type 1-Associated Plexiform Neurofibromas of the Face and Adjacent Head Regions: Topography of Lesions and Surgical Treatment Data of 179 Patients.

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引用本文的文献

[1]
Facial Diffuse Plexiform Neurofibroma-associated Mandibular Deformities: Surgical Interventions and Monitoring of Treatment Results in a Patient for Over 40 Years.

Cancer Diagn Progn. 2025-5-3

[2]
Malignant Peripheral Nerve Sheath Tumor (MPNST) Arising from Orbital Plexiform Neurofibroma in a Small Child With Neurofibromatosis Type 1.

Cancer Diagn Progn. 2025-3-3

[3]
[Progress in neurosurgical treatment of neurofibromatosis type 1].

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2024-10-15

[4]
[Progress and prospects in diagnosis and treatment of neurofibromatosis type 1].

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2024-10-15

本文引用的文献

[1]
Posterior-Anterior Cephalometric Study of Neurofibromatosis Type 1 Patients With Facial Plexiform Neurofibroma: Analysis of Skeletal Symmetry Concerning Midfacial and Skull Base Reference Points (Zygomatic Arch, Mastoid, and Juga).

Anticancer Res. 2022-5

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The Number of Surgical Interventions and Specialists Involved in the Management of Patients with Neurofibromatosis Type I: A 25-Year Analysis.

J Pers Med. 2022-4-1

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Peripheral Nerve Sheath Tumors in Patients With Neurofibromatosis Type 1: Morphological and Immunohistochemical Study.

Anticancer Res. 2022-3

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Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019.

Am J Med Genet A. 2022-6

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Surgery for Peripheral Nerve Sheath Tumours of the Buttocks, Legs and Feet in 90 Patients With Neurofibromatosis Type 1.

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