Clarification the terms and definition related to neurofibromatosis type 1_Chinese Journal of Reparative and Reconstructive Surgery

Authors：

HUANG Jingxuan ^1,2 ,  WANG Zhichao ^1,2

1. Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, P. R. China;
2. Neurofibromatosis Type 1 Center and Laboratory for Neurofibromatosis Type 1 Research, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, P. R. China;

Corresponding author：

WANG Zhichao, Email: shmuwzc@163.com

Keywords：

Neurofibromatosis type 1; cutaneous neurofibroma; plexiform neurofibroma; definition

DOI：

10.7507/1002-1892.202406088

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Objective To summarize the terms and definitions related to neurofibromatosis type 1 (NF1) with a view to standardizing and unifying the existing terminology system. Methods To review the research literature related to NF1 at home and abroad, and to summarize the expressions of the disease and related terms. Results There are still some limitations in the current knowledge of NF1, especially in the expression of the terminology, and there are discrepancies in the description and naming of NF1-related features in different medical literatures and clinical guides. There are differences in the description and naming of NF1-related features in different medical literature and clinical guidelines. Through a systematic review of the literature, this paper provides a detailed compendium and summary of the terms and definitions of NF1-related clinical manifestations, pathological features, and genetic types, and further standardizes and unifies existing diagnostic criteria and terminology systems. Conclusion The terms and definitions of NF1-related clinical manifestations are summarized to enhance the knowledge of clinicians and researchers related to NF1.

1.	Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis type 1. Nat Rev Dis Primers, 2017, 3: 17004. doi: 10.1038/nrdp.2017.4.
2.	Uusitalo E, Leppävirta J, Koffert A, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol, 2015, 135(3): 904-906.
3.	罗韦, 牛忠磊, 吕婉莹. 《第二批罕见病目录》公布. 人民政协报, 2024-02-24(004).
4.	Gross AM, Wolters PL, Dombi E, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med, 2020, 382(15): 1430-1442.
5.	Wang ZC, Li HB, Wei CJ, et al. Community-boosted neurofibromatosis research in China. Lancet Neurol, 2022, 21(9): 773-774.
6.	朱倍瑶. 第三届神经纤维瘤病专病论坛在上海召开. 组织工程与重建外科, 2022, 18(4): 359.
7.	Jo VY, Demicco EG. Update from the 5th edition of the world health organization classification of head and neck tumors: Soft tissue tumors. Head Neck Pathol, 2022, 16(1): 87-100.
8.	Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet, 2009, 373(9679): 1974-1986.
9.	McClatchey AI. Neurofibromatosis. Annu Rev Pathol, 2007, 2: 191-216.
10.	Louis DN, Perry A, Wesseling P, et al. The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol, 2021, 23(8): 1231-1251.
11.	Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol, 2014, 13(8): 834-843.
12.	Caldemeyer KS, Mirowski GW. Neurofibromatosis type 2. J Am Acad Dermatol, 2001, 45(5): 744-745.
13.	Tamura R. Current understanding of neurofibromatosis type 1, 2, and Schwannomatosis. Int J Mol Sci, 2021, 22(11): 5850. doi: 10.3390/ijms22115850.
14.	Mckeever K, Shepherd C W, Crawford H, et al. An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age. Ulster Med J, 2008, 77(3): 160-163.
15.	Sørensen SA, Mulvihill JJ, Nielsen A. On the natural history of von Recklinghausen neurofibromatosis. Ann N Y Acad Sci, 1986, 486: 30-37.
16.	Marwaha A, Malach J, Shugar A, et al. Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1. Br J Dermatol, 2018, 179(5): 1216-1217.
17.	Hall JG. Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am J Hum Genet, 1988, 43(4): 355-363.
18.	Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology, 2001, 56(11): 1433-1443.
19.	Ejerskov C, Raundahl M, Gregersen PA, et al. Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review. Orphanet J Rare Dis, 2021, 16(1): 180. doi: 10.1186/s13023-021-01796-3.
20.	Brems H, Beert E, de Ravel T, et al. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol, 2009, 10(5): 508-515.
21.	Monroe CL, Dahiya S, Gutmann DH. Dissecting clinical heterogeneity in neurofibromatosis type 1. Annu Rev Pathol, 2017, 12: 53-74.
22.	王智超, 李青峰. Ⅰ型神经纤维瘤病临床诊疗专家共识 (2021版). 中国修复重建外科杂志, 2021, 35(11): 1384-1395.
23.	Jouhilahti EM, Peltonen S, Callens T, et al. The development of cutaneous neurofibromas. Am J Pathol, 2011, 178(2): 500-505.
24.	肖文军, 游宇光, 邹良英, 等. 周围神经纤维瘤的超声诊断价值[C]//中国超声医学工程学会. 中国超声医学工程学会第七届全国肌肉骨骼超声医学学术会议论文汇编. 赣南医学院第一附属医院超声医学科, 2019: 1. doi: 10.26914/c.cnkihy.2019.009819.
25.	Ferreira Filho AC, Blanco CMB, Trindade JVC, et al. Surgical outcome of spinal schwannoma and neurofibroma. Rev Assoc Med Bras (1992), 2023, 69(9): e20230190. doi: 10.1590/1806-9282.20230190.
26.	方杰, 张艾丽, 林伟清, 等. 皮肤孤立性神经纤维瘤1例. 皮肤性病诊疗学杂志, 2022, 29(4): 366-368.
27.	朱倍瑶, 魏澄江, 王薇, 等. 皮肤型神经纤维瘤的治疗方案及研究进展. 中国修复重建外科杂志, 2022, 36(9): 1064-1071.
28.	Ortonne N, Wolkenstein P, Blakeley JO, et al. Cutaneous neurofibromas: Current clinical and pathologic issues. Neurology, 2018, 91(2 Suppl 1): S5-S13.
29.	Fisher MJ, Blakeley JO, Weiss BD, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol, 2022, 24(11): 1827-1844.
30.	Liu J, Huang JN, Wang MH, et al. Image-based differentiation of benign and malignant peripheral nerve sheath tumors in neurofibromatosis type 1. Front Oncol, 2022, 12: 898971. doi: 10.3389/fonc.2022.898971.
31.	Somatilaka BN, Sadek A, McKay RM, et al. Malignant peripheral nerve sheath tumor: models, biology, and translation. Oncogene, 2022, 41(17): 2405-2421.
32.	Louis DN, Perry A, Reifenberger G, et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropathol, 2016, 131(6): 803-820.
33.	Rhodes SD, He Y, Smith A, et al. Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation. Hum Mol Genet, 2019, 28(16): 2752-2762.
34.	Brown R. Management of central and peripheral nervous system tumors in patients with neurofibromatosis. Curr Oncol Rep, 2023, 25(12): 1409-1417.

1. Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis type 1. Nat Rev Dis Primers, 2017, 3: 17004. doi: 10.1038/nrdp.2017.4.
2. Uusitalo E, Leppävirta J, Koffert A, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol, 2015, 135(3): 904-906.
3. 罗韦, 牛忠磊, 吕婉莹. 《第二批罕见病目录》公布. 人民政协报, 2024-02-24(004).
4. Gross AM, Wolters PL, Dombi E, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med, 2020, 382(15): 1430-1442.
5. Wang ZC, Li HB, Wei CJ, et al. Community-boosted neurofibromatosis research in China. Lancet Neurol, 2022, 21(9): 773-774.
6. 朱倍瑶. 第三届神经纤维瘤病专病论坛在上海召开. 组织工程与重建外科, 2022, 18(4): 359.
7. Jo VY, Demicco EG. Update from the 5th edition of the world health organization classification of head and neck tumors: Soft tissue tumors. Head Neck Pathol, 2022, 16(1): 87-100.
8. Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet, 2009, 373(9679): 1974-1986.
9. McClatchey AI. Neurofibromatosis. Annu Rev Pathol, 2007, 2: 191-216.
10. Louis DN, Perry A, Wesseling P, et al. The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol, 2021, 23(8): 1231-1251.
11. Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol, 2014, 13(8): 834-843.
12. Caldemeyer KS, Mirowski GW. Neurofibromatosis type 2. J Am Acad Dermatol, 2001, 45(5): 744-745.
13. Tamura R. Current understanding of neurofibromatosis type 1, 2, and Schwannomatosis. Int J Mol Sci, 2021, 22(11): 5850. doi: 10.3390/ijms22115850.
14. Mckeever K, Shepherd C W, Crawford H, et al. An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age. Ulster Med J, 2008, 77(3): 160-163.
15. Sørensen SA, Mulvihill JJ, Nielsen A. On the natural history of von Recklinghausen neurofibromatosis. Ann N Y Acad Sci, 1986, 486: 30-37.
16. Marwaha A, Malach J, Shugar A, et al. Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1. Br J Dermatol, 2018, 179(5): 1216-1217.
17. Hall JG. Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am J Hum Genet, 1988, 43(4): 355-363.
18. Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology, 2001, 56(11): 1433-1443.
19. Ejerskov C, Raundahl M, Gregersen PA, et al. Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review. Orphanet J Rare Dis, 2021, 16(1): 180. doi: 10.1186/s13023-021-01796-3.
20. Brems H, Beert E, de Ravel T, et al. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol, 2009, 10(5): 508-515.
21. Monroe CL, Dahiya S, Gutmann DH. Dissecting clinical heterogeneity in neurofibromatosis type 1. Annu Rev Pathol, 2017, 12: 53-74.
22. 王智超, 李青峰. Ⅰ型神经纤维瘤病临床诊疗专家共识 (2021版). 中国修复重建外科杂志, 2021, 35(11): 1384-1395.
23. Jouhilahti EM, Peltonen S, Callens T, et al. The development of cutaneous neurofibromas. Am J Pathol, 2011, 178(2): 500-505.
24. 肖文军, 游宇光, 邹良英, 等. 周围神经纤维瘤的超声诊断价值[C]//中国超声医学工程学会. 中国超声医学工程学会第七届全国肌肉骨骼超声医学学术会议论文汇编. 赣南医学院第一附属医院超声医学科, 2019: 1. doi: 10.26914/c.cnkihy.2019.009819.
25. Ferreira Filho AC, Blanco CMB, Trindade JVC, et al. Surgical outcome of spinal schwannoma and neurofibroma. Rev Assoc Med Bras (1992), 2023, 69(9): e20230190. doi: 10.1590/1806-9282.20230190.
26. 方杰, 张艾丽, 林伟清, 等. 皮肤孤立性神经纤维瘤1例. 皮肤性病诊疗学杂志, 2022, 29(4): 366-368.
27. 朱倍瑶, 魏澄江, 王薇, 等. 皮肤型神经纤维瘤的治疗方案及研究进展. 中国修复重建外科杂志, 2022, 36(9): 1064-1071.
28. Ortonne N, Wolkenstein P, Blakeley JO, et al. Cutaneous neurofibromas: Current clinical and pathologic issues. Neurology, 2018, 91(2 Suppl 1): S5-S13.
29. Fisher MJ, Blakeley JO, Weiss BD, et al. Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol, 2022, 24(11): 1827-1844.
30. Liu J, Huang JN, Wang MH, et al. Image-based differentiation of benign and malignant peripheral nerve sheath tumors in neurofibromatosis type 1. Front Oncol, 2022, 12: 898971. doi: 10.3389/fonc.2022.898971.
31. Somatilaka BN, Sadek A, McKay RM, et al. Malignant peripheral nerve sheath tumor: models, biology, and translation. Oncogene, 2022, 41(17): 2405-2421.
32. Louis DN, Perry A, Reifenberger G, et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary. Acta Neuropathol, 2016, 131(6): 803-820.
33. Rhodes SD, He Y, Smith A, et al. Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation. Hum Mol Genet, 2019, 28(16): 2752-2762.
34. Brown R. Management of central and peripheral nervous system tumors in patients with neurofibromatosis. Curr Oncol Rep, 2023, 25(12): 1409-1417.

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