Interpretation of the Expert Consensus for Full Course Management of Plexiform Neurofibroma (2025 Edition)_Chinese Journal of Reparative and Reconstructive Surgery

Authors：

 Group of Neurofibromatosis, Plastic and Reconstructive Surgery Society of Chinese Medical Association , China Rare Disease Alliance Neurofibromatosis Expert Committee

Corresponding?author：

Group of Neurofibromatosis, Plastic and Reconstructive Surgery Society of Chinese Medical Association, Email: shmuwzc@163.com

Keywords：

Plexiform neurofibroma; full course management; expert consensus; interpretation

DOI：

10.7507/1002-1892.202602027

Video：

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Neurofibromatosis type 1 (NF1), an autosomal dominant genetic disorder resulting from mutations in the NF1 gene, is frequently characterized by the development of plexiform neurofibromas (PNFs). A paradigm shift in the management of PNFs has occurred following the successful development of mitogen-activated protein kinase kinase inhibitors. In light of these advancements, the Expert Consensus for Full Course Management of Plexiform Neurofibroma (2025 Edition) was published by the Group of Neurofibromatosis, Plastic and Reconstructive Surgery Society of Chinese Medical Association in 2025. This consensus provides recommendations on the diagnosis, screening, surgical management, medical therapy, disease surveillance, as well as patient education and psychosocial support for NF1-associated PNFs. This article aims to interpret and discuss full course management of PNF in this consensus to provide references for clinical practice.

Citation： Group of Neurofibromatosis, Plastic and Reconstructive Surgery Society of Chinese Medical Association, China Rare Disease Alliance Neurofibromatosis Expert Committee. Interpretation of the Expert Consensus for Full Course Management of Plexiform Neurofibroma (2025 Edition). Chinese Journal of Reparative and Reconstructive Surgery, 2026, 40(4): 519-525. doi: 10.7507/1002-1892.202602027 Copy

1.	中華醫學會整形外科分會神經纖維瘤病學組. 叢狀神經纖維瘤的全病程管理專家共識 (2025版). 中華醫學雜志, 2025, 105(5): 331-345.
2.	中華人民共和國國家衛生健康委員會. 神經纖維瘤病診療指南(2025年版). 中國修復重建外科雜志, 2026, 40(1): 153-160.
3.	Fisher MJ, Blakeley JO, Weiss BD, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol, 2022, 24(11): 1827-1844.
4.	Copley-Merriman C, Yang X, Juniper M, et al. Natural history and disease burden of neurofibromatosis type 1 with plexiform neurofibromas: a systematic literature review. Adolesc Health Med Ther, 2021, 12: 55-66.
5.	Poplausky D, Young JN, Tai H, et al. Dermatologic manifestations of neurofibromatosis type 1 and emerging treatments. Cancers (Basel), 2023, 15(10): 2770. doi: 10.3390/cancers15102770.
6.	黃景宣, 王智超. 厘定Ⅰ型神經纖維瘤病相關術語與定義. 中國修復重建外科雜志, 2024, 38(10): 1161-1165.
7.	中國罕見病聯盟Ⅰ型神經纖維瘤病多學科診療協作組. Ⅰ型神經纖維瘤病多學科診治指南 (2023版). 罕見病研究, 2023, 2(2): 210-230.
8.	Yoo HK, Porteous A, Ng A, et al. Impact of neurofibromatosis type 1 with plexiform neurofibromas on the health-related quality of life and work productivity of adult patients and caregivers in the UK: a cross-sectional survey. BMC Neurol, 2023, 23(1): 419. doi: 10.1186/s12883-023-03429-7.
9.	Ahlawat S, Blakeley JO, Langmead S, et al. Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Skeletal Radiol, 2020, 49(2): 199-219.
10.	Ly KI, Blakeley JO. The diagnosis and management of neurofibromatosis type 1. Med Clin North (Am), 2019, 103(6): 1035-1054.
11.	王斌, 黃波濤, 鄧明明, 等. 外周良性神經纖維瘤與神經鞘瘤的MRI表現及鑒別診斷. 影像診斷與介入放射學, 2014, 23(2): 99-102.
12.	Akshintala S, Baldwin A, Liewehr DJ, et al. Longitudinal evaluation of peripheral nerve sheath tumors in neurofibromatosis type 1: growth analysis of plexiform neurofibromas and distinct nodular lesions. Neuro Oncol, 2020, 22(9): 1368-1378.
13.	Kim A, Stewart DR, Reilly KM, et al. Malignant peripheral nerve sheath tumors state of the science: leveraging clinical and biological insights into effective therapies. Sarcoma, 2017, 2017: 7429697. doi: 10.1155/2017/7429697.
14.	Ejerskov C, Farholt S, Nielsen FSK, et al. Clinical characteristics and management of children and adults with neurofibromatosis type 1 and plexiform neurofibromas in Denmark: A nationwide study. Oncol Ther, 2023, 11(1): 97-110.
15.	Chan GC, Nicholls JM, Lee AC, et al. Malignant peripheral neuroectodermal tumor in an infant with neurofibromatosis type 1. Med Pediatr Oncol, 1996, 26(3): 215-219.
16.	Hasiotou M, Danassi-Afentaki D, Stefanaki K, et al. Early atypical malignant transformation of a plexiform neurofibroma in a 4-year-old boy with Neurofibromatosis 1. Pediatr Blood Cancer, 2005, 45(1): 76-77.
17.	Han Y, Li B, Yu X, et al. Efficacy and safety of selumetinib in patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas: a systematic review and meta-analysis. J Neurol, 2024, 271(5): 2379-2389.
18.	Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, et al. Recommendations for imaging tumor response in neurofibromatosis clinical trials. Neurology, 2013, 81(21 Suppl 1): S33-S40.
19.	Solares I, Vinal D, Morales-Conejo M. Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit. Rev Clin Esp (Barc), 2022, 222(8): 486-495.
20.	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.
21.	Kim H, Yoon HM, Kim EK, et al. Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma. Neuro Oncol, 2024, 26(12): 2352-2363.

1. 中華醫學會整形外科分會神經纖維瘤病學組. 叢狀神經纖維瘤的全病程管理專家共識 (2025版). 中華醫學雜志, 2025, 105(5): 331-345.
2. 中華人民共和國國家衛生健康委員會. 神經纖維瘤病診療指南(2025年版). 中國修復重建外科雜志, 2026, 40(1): 153-160.
3. Fisher MJ, Blakeley JO, Weiss BD, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol, 2022, 24(11): 1827-1844.
4. Copley-Merriman C, Yang X, Juniper M, et al. Natural history and disease burden of neurofibromatosis type 1 with plexiform neurofibromas: a systematic literature review. Adolesc Health Med Ther, 2021, 12: 55-66.
5. Poplausky D, Young JN, Tai H, et al. Dermatologic manifestations of neurofibromatosis type 1 and emerging treatments. Cancers (Basel), 2023, 15(10): 2770. doi: 10.3390/cancers15102770.
6. 黃景宣, 王智超. 厘定Ⅰ型神經纖維瘤病相關術語與定義. 中國修復重建外科雜志, 2024, 38(10): 1161-1165.
7. 中國罕見病聯盟Ⅰ型神經纖維瘤病多學科診療協作組. Ⅰ型神經纖維瘤病多學科診治指南 (2023版). 罕見病研究, 2023, 2(2): 210-230.
8. Yoo HK, Porteous A, Ng A, et al. Impact of neurofibromatosis type 1 with plexiform neurofibromas on the health-related quality of life and work productivity of adult patients and caregivers in the UK: a cross-sectional survey. BMC Neurol, 2023, 23(1): 419. doi: 10.1186/s12883-023-03429-7.
9. Ahlawat S, Blakeley JO, Langmead S, et al. Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. Skeletal Radiol, 2020, 49(2): 199-219.
10. Ly KI, Blakeley JO. The diagnosis and management of neurofibromatosis type 1. Med Clin North (Am), 2019, 103(6): 1035-1054.
11. 王斌, 黃波濤, 鄧明明, 等. 外周良性神經纖維瘤與神經鞘瘤的MRI表現及鑒別診斷. 影像診斷與介入放射學, 2014, 23(2): 99-102.
12. Akshintala S, Baldwin A, Liewehr DJ, et al. Longitudinal evaluation of peripheral nerve sheath tumors in neurofibromatosis type 1: growth analysis of plexiform neurofibromas and distinct nodular lesions. Neuro Oncol, 2020, 22(9): 1368-1378.
13. Kim A, Stewart DR, Reilly KM, et al. Malignant peripheral nerve sheath tumors state of the science: leveraging clinical and biological insights into effective therapies. Sarcoma, 2017, 2017: 7429697. doi: 10.1155/2017/7429697.
14. Ejerskov C, Farholt S, Nielsen FSK, et al. Clinical characteristics and management of children and adults with neurofibromatosis type 1 and plexiform neurofibromas in Denmark: A nationwide study. Oncol Ther, 2023, 11(1): 97-110.
15. Chan GC, Nicholls JM, Lee AC, et al. Malignant peripheral neuroectodermal tumor in an infant with neurofibromatosis type 1. Med Pediatr Oncol, 1996, 26(3): 215-219.
16. Hasiotou M, Danassi-Afentaki D, Stefanaki K, et al. Early atypical malignant transformation of a plexiform neurofibroma in a 4-year-old boy with Neurofibromatosis 1. Pediatr Blood Cancer, 2005, 45(1): 76-77.
17. Han Y, Li B, Yu X, et al. Efficacy and safety of selumetinib in patients with neurofibromatosis type 1 and inoperable plexiform neurofibromas: a systematic review and meta-analysis. J Neurol, 2024, 271(5): 2379-2389.
18. Dombi E, Ardern-Holmes SL, Babovic-Vuksanovic D, et al. Recommendations for imaging tumor response in neurofibromatosis clinical trials. Neurology, 2013, 81(21 Suppl 1): S33-S40.
19. Solares I, Vinal D, Morales-Conejo M. Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit. Rev Clin Esp (Barc), 2022, 222(8): 486-495.
20. 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.
21. Kim H, Yoon HM, Kim EK, et al. Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma. Neuro Oncol, 2024, 26(12): 2352-2363.

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Interpretation of the Expert Consensus for Full Course Management of Plexiform Neurofibroma (2025 Edition)

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