Progress in neurosurgical treatment of neurofibromatosis type 1_Chinese Journal of Reparative and Reconstructive Surgery

Authors：

LI Ce ¹ , LIU Binghan ¹ , WANG Yanjun ¹ , YU Taifei ² ,  ZHENG Zhiming ¹ ,  WANG Guodong ¹

1. Department of Neurosurgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji’nan Shandong, 250021, P. R. China;
2. Department of Radiology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Ji’nan Shandong, 250021, P. R. China;

Corresponding author：

ZHENG Zhiming, Email: zhiming0119@126.com; WANG Guodong, Email: wgd0121@sina.com

Keywords：

Neurofibromatosis type 1; low-grade glioma; plexiform neurofibroma; malignant peripheral nerve sheath tumor; neurosurgical treatment; multi-disciplinary

DOI：

10.7507/1002-1892.202407058

Video：

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Objective To summarize the latest developments in neurosurgical treatments for neurofibromatosis type 1 (NF1) and explore therapeutic strategies to provide comprehensive treatment guidelines for clinicians. Methods The recent domestic and international literature and clinical cases in the field of NF1 were reviewed. The main types of neurological complications associated with NF1 and their treatments were thorough summarized and the future research directions in neurosurgery was analyzed. Results NF1 frequently results in complex and diverse lesions in the central and peripheral nervous systems, particularly low-grade gliomas in the brain and spinal canal and paraspinal neurofibromas. Treatment decisions should be made by a multidisciplinary team. Symptomatic plexiform neurofibromas and tumors with malignant imaging evidence require neurosurgical intervention. The goals of surgery include reducing tumor size, alleviating pain, and improving appearance. Postoperative functional rehabilitation exercises, long-term multidisciplinary follow-up, and psychosocial interventions are crucial for improving the quality of life for patients. Advanced imaging guidance systems and artificial intelligence technologies can help increase tumor resection rates and reduce recurrence. Conclusion Neurosurgical intervention is the primary treatment for symptomatic plexiform neurofibromas and malignant peripheral nerve sheath tumors when medical treatment is ineffective and the lesions progress rapidly. Preoperative multidisciplinary assessment, intraoperative electrophysiological monitoring, and advanced surgical assistance devices significantly enhance surgical efficacy and safety. Future research should continue to explore new surgical techniques and improve postoperative management strategies to achieve more precise and personalized treatment for NF1 patients.

Citation： LI Ce, LIU Binghan, WANG Yanjun, YU Taifei, ZHENG Zhiming, WANG Guodong. Progress in neurosurgical treatment of neurofibromatosis type 1. Chinese Journal of Reparative and Reconstructive Surgery, 2024, 38(10): 1171-1179. doi: 10.7507/1002-1892.202407058 Copy

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1. Tolentino ES, Souza Pinto GN, Maciel L, et al. Exuberant manifestation of neurofibromatosis type 1 affecting 3 generations: delayed diagnosis and the importance of the multidisciplinary approach. Oral Surg Oral Med Oral Pathol Oral Radiol, 2019, 128(3): e108-e112.
2. Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med, 2021, 23(8): 1506-1513.
3. Lee TJ, Chopra M, Kim RH, et al. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis, 2023, 18(1): 292. doi: 10.1186/s13023-023-02911-2.
4. Miller DT, Freedenberg D, Schorry E, et al. Health supervision for children with neurofibromatosis type 1. Pediatrics, 2019, 143(5): e20190660. doi: 10.1542/peds.2019-0660.
5. Mikhailova S, Kozlova V, Kazubskay T, et al. Malignant tumors in children with neurofibromatosis type 1. Problems in Oncology, 2021, 67(3): 421-429.
6. Costa AA, Gutmann DH. Brain tumors in neurofibromatosis type 1. Neurooncol Adv, 2019, 1(1): vdz040. doi: 10.1093/noajnl/vdz040.
7. 中国罕见病联盟Ⅰ型神经纤维瘤病多学科诊疗协作组. Ⅰ型神经纤维瘤病多学科诊治指南 (2023版). 罕见病研究, 2023, 2(2): 210-230.
8. Campen CJ, Gutmann DH. Optic pathway gliomas in neurofibromatosis type 1. J Child Neurol, 2018, 33(1): 73-81.
9. Magro G, Broggi G, Angelico G, et al. Practical approach to histological diagnosis of peripheral nerve sheath tumors: An update. Diagnostics (Basel), 2022, 12(6): 1463. doi: 10.3390/diagnostics12061463.
10. Fisher MJ, Blakeley JO, Weiss BD, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol, 2022, 24(11): 1827-1844.
11. Mohd Ramli SS, See GB, Zaki FM, et al. A rare tumor in the neck of a child: Plexiform neurofibroma. Turk Arch Otorhinolaryngol, 2021, 59(4): 297-301.
12. Friedrich RE, Modemann M. Neurofibromatosis type 1-associated plexiform neurofibromas of the face and adjacent head regions: Topography of lesions and surgical treatment data of 179 patients. J Maxillofac Oral Surg, 2023, 22(3): 511-524.
13. Avery RA, Katowitz JA, Fisher MJ, et al. Orbital/periorbital plexiform neurofibromas in children with neurofibromatosis type 1: Multidisciplinary recommendations for care. Ophthalmology, 2017, 124(1): 123-132.
14. Nguyen R, Dombi E, Akshintala S, et al. Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging. J Neurooncol, 2015, 121(1): 209-215.
15. Prudner BC, Ball T, Rathore R, et al. Diagnosis and management of malignant peripheral nerve sheath tumors: Current practice and future perspectives. Neurooncol Adv, 2019, 2(Suppl 1): i40-i49.
16. Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis type 1. Nat Rev Dis Primers, 2017, 3: 17004. doi: 10.1038/nrdp.2017.4.
17. Rabab’h O, Gharaibeh A, Al-Ramadan A, et al. Pharmacological approaches in neurofibromatosis type 1-associated nervous system tumors. Cancers (Basel), 2021, 13(15): 3880. doi: 10.3390/cancers13153880.
18. Foiadelli T, Naso M, Licari A, et al. Advanced pharmacological therapies for neurofibromatosis type 1-related tumors. Acta Biomed, 2020, 91(7-S): 101-114.
19. Nellan A, Wright E, Campbell K, et al. Retrospective analysis of combination carboplatin and vinblastine for pediatric low-grade glioma. J Neurooncol, 2020, 148(3): 569-575.
20. Roux C, Revon-Rivière G, Gentet JC, et al. Metronomic maintenance with weekly vinblastine after induction with bevacizumab-irinotecan in children with low-grade glioma prevents early relapse. J Pediatr Hematol Oncol, 2021, 43(5): e630-e634.
21. Green K, Panagopoulou P, D’Arco F, et al. A nationwide evaluation of bevacizumab-based treatments in pediatric low-grade glioma in the UK: Safety, efficacy, visual morbidity, and outcomes. Neuro Oncol, 2023, 25(4): 774-785.
22. Klesse LJ, Jordan JT, Radtke HB, et al. The use of MEK inhibitors in neurofibromatosis type 1-associated tumors and management of toxicities. Oncologist, 2020, 25(7): e1109-e1116.
23. Packer RJ, Iavarone A, Jones DTW, et al. Implications of new understandings of gliomas in children and adults with NF1: report of a consensus conference. Neuro Oncol, 2020, 22(6): 773-784.
24. Kotch C, Brosius SN, De Raedt T, et al. Updates in the management of central and peripheral nervous system tumors among patients with neurofibromatosis type 1 and neurofibromatosis type 2. Pediatr Neurosurg, 2023, 58(5): 267-280.
25. Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol, 2014, 13(8): 834-843.
26. Kinori M, Armarnik S, Listernick R, et al. Neurofibromatosis type 1-associated optic pathway glioma in children: a follow-up of 10 years or more. Am J Ophthalmol, 2021, 221: 91-96.
27. Picariello S, Cerbone M, D’Arco F, et al. A 40-year cohort study of evolving hypothalamic dysfunction in infants and young children (<3 years) with optic pathway gliomas. Cancers (Basel), 2022, 14(3): 747. doi: 10.3390/cancers14030747.
28. Bhatia S, Chen Y, Wong FL, et al. Subsequent neoplasms after a primary tumor in individuals with neurofibromatosis type 1. J Clin Oncol, 2019, 37(32): 3050-3058.
29. Ly KI, Blakeley JO. The diagnosis and management of neurofibromatosis type 1. Med Clin North Am, 2019, 103(6): 1035-1054.
30. 任婷婷, 马建民. 视神经胶质瘤的临床诊疗及研究进展. 中华眼科杂志, 2023, 59(5): 415-419.
31. Glombova M, Petrak B, Lisy J, et al. Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1. Brain Dev, 2019, 41(8): 678-690.
32. Mahdi J, Shah AC, Sato A, et al. A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1. Neurology, 2017, 88(16): 1584-1589.
33. Yoshinaga A, Tsuge I, Yoshinaga D, et al. Reduction of intraoperative bleeding in diffuse plexiform neurofibroma resection using the ligasure vessel sealing system. Plast Reconstr Surg, 2021, 148(2): 344e-346e.
34. 朱倍瑶, 顾熠辉, 王薇, 等. 丛状神经纤维瘤的手术原则及策略. 中华整形外科杂志, 2023, 39(11): 1244-1250.
35. Gross AM, Dombi E, Wolters PL, et al. Long-term safety and efficacy of selumetinib in children with neurofibromatosis type 1 on a phase 1/2 trial for inoperable plexiform neurofibromas. Neuro Oncol, 2023, 25(10): 1883-1894.
36. Guo YX, Wang HX, Wang SS, et al. Treatment with selumetinib for Café-au-Lait macules and plexiform neurofibroma in pediatric patients with neurofibromatosis type 1. JAMA Dermatol, 2024, 160(3): 366-368.
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Chinese Journal of Reparative and Reconstructive Surgery

Progress in neurosurgical treatment of neurofibromatosis type 1

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