Expert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition)_Chinese Journal of Reparative and Reconstructive Surgery

Authors：

 National Multi-center Treatment Collaboration Group for Neurofibromatosis Type 1 , National Multi-center Research Platform for Plastic and Reconstructive Surgery

Corresponding author：

National Multi-center Treatment Collaboration Group for Neurofibromatosis Type 1, Email: dr.liqingfeng@shsmu.edu.cn

Keywords：

Neurofibromatosis type 1; expert consensus; clinical treatment; National Multi-center Treatment Collaboration Group for Neurofibromatosis Type 1

DOI：

10.7507/1002-1892.202108065

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Neurofibromatosis type 1 (NF1) is an autosomal dominant neoplastic disease caused by mutations in the NF1 gene and one of the most challenging diseases to treat. Patients have a characteristic phenotype with neurofibromas as the main features in different forms, including numerous cutaneous neurofibromas, plexiform neurofibromas involving the primary nerves, or malignant peripheral nerve sheath tumors with a very short survival period after malignant transformation. NF1 patients also suffer from multi-system involvement, with a high rate of deformity and disability, making complete surgical resection more difficult. Currently, there is no consensus on the diagnosis and treatment of NF1 in China, and different disciplines have different understandings of NF1. Multidisciplinary systematic evaluations and cooperative treatments are the keys to improve the treatment, quality of life, and prognosis of NF1 patients. In 2020, the Department of Plastic Surgery of the Ninth People’s Hospital of Shanghai Jiaotong University School of Medicine led the establishment of the first multi-center collaboration group for NF1 in China. Furthermore, the group had worked with renowned experts from the various departments including surgical oncology, medical oncology, dermatology, reproductive medicine, et al. in China to formulate the “Expert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition)”, aiming to promote standardized and homogeneous treatment covering the whole life cycle of NF1 patients and improve the treatment level and outcome of NF1 patients in China.

Citation： National Multi-center Treatment Collaboration Group for Neurofibromatosis Type 1, National Multi-center Research Platform for Plastic and Reconstructive Surgery. Expert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition). Chinese Journal of Reparative and Reconstructive Surgery, 2021, 35(11): 1384-1395. doi: 10.7507/1002-1892.202108065 Copy

1.	No authors listed. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md. , USA, July 13-15, 1987. Neurofibromatosis, 1988, 1(3): 172-178.
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.	Ferner RE, Gutmann DH. Neurofibromatosis type 1 (NF1): diagnosis and management. Handb Clin Neurol, 2013, 115: 939-955.
4.	DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics, 2000, 105(3Pt1): 608-614.
5.	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.
6.	Cooper DN, Upadhyaya M. The germline mutational spectrum in neurofibromatosis type 1 and genotype–phenotype correlations//Upadhyaya M, Cooper DN. Neurofibromatosis type 1: Molecular and cellular biology. Berlin, Heidelberg: Springer, 2012: 115-134.
7.	Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c. 2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet, 2007, 80(1): 140-151.
8.	Rojnueangnit K, Xie J, Gomes A, et al. High incidence of noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809: Genotype-phenotype correlation. Hum Mutat, 2015, 36(11): 1052-1063.
9.	Pasmant E, Sabbagh A, Spurlock G, et al. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat, 2010, 31(6): E1506-1518.
10.	Koczkowska M, Chen Y, Callens T, et al. Genotype-phenotype correlation in NF1: Evidence for a more severe phenotype associated with missense mutations affecting nf1 codons 844-848. Am J Hum Genet, 2018, 102(1): 69-87.
11.	Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat, 2000, 15(6): 541-555.
12.	Assunto A, Ferrara U, De Luca A, et al. Isoform-specific NF1 mRNA levels correlate with disease severity in neurofibromatosis type 1. Orphanet J Rare Dis, 2019, 14(1): 261. doi: 10.1186/s13023-019-1223-1.
13.	Sabbagh A, Pasmant E, Imbard A, et al. NF1 molecular characterization and neurofibromatosis type Ⅰ genotype-phenotype correlation: the French experience. Hum Mutat, 2013, 34(11): 1510-1518.
14.	Pasmant E, Vidaud M, Vidaud D, et al. Neurofibromatosis type 1: from genotype to phenotype. J Med Genet, 2012, 49(8): 483-489.
15.	Messiaen L, Vogt J, Bengesser K, et al. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat, 2011, 32(2): 213-219.
16.	Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology, 2001, 56(11): 1433-1443.
17.	Tinschert S, Naumann I, Stegmann E, et al. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet, 2000, 8(6): 455-459.
18.	Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis type 1. Nat Rev Dis Primers, 2017, 3: 17004. doi: 10.1038/nrdp.2017.4.
19.	Dunning-Davies BM, Parker APJ. Annual review of children with neurofibromatosis type 1. Arch Dis Child Educ Pract Ed, 2016, 101(2): 102-111.
20.	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.
21.	Gross AM, Singh G, Akshintala S, et al. Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1. Neuro Oncol, 2018, 20(12): 1643-1651.
22.	Stewart DR, Korf BR, Nathanson KL, et al. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 2018, 20(7): 671-682.
23.	Amar L, Servais A, Gimenez-Roqueplo AP, et al. Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma. J Clin Endocrinol Metab, 2005, 90(4): 2110-2116.
24.	Képénékian L, Mognetti T, Lifante JC, et al. Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1. Eur J Endocrinol, 2016, 175(4): 335-344.
25.	Petr EJ, Else T. Pheochromocytoma and paraganglioma in neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. Clin Diabetes Endocrinol, 2018, 4: 15.
26.	Brems H, Chmara M, Sahbatou M, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet, 2007, 39(9): 1120-1126.
27.	Dumitrescu CE, Collins MT. McCune-albright syndrome. Orphanet J Rare Dis, 2008, 3: 12. doi: 10.1186/1750-1172-3-12.
28.	Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet, 2009, 373(9679): 1974-1986.
29.	Roberts AE, Allanson JE, Tartaglia M, et al. Noonan syndrome. Lancet, 2013, 381(9863): 333-342.
30.	Suerink M, Ripperger T, Messiaen L, et al. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy. J Med Genet, 2019, 56(2): 53-62.
31.	Bergqvist C, Servy A, Valeyrie-Allanore L, et al. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis, 2020, 15(1): 37. doi: 10.1186/s13023-020-1310-3.
32.	Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet, 2007, 44(2): 81-88.
33.	Moreno JC, Mathoret C, Lantieri L, et al. Carbon dioxide laser for removal of multiple cutaneous neurofibromas. Br J Dermatol, 2001, 144(5): 1096-1098.
34.	Lutterodt CG, Mohan A, Kirkpatrick N. The use of electrodessication in the treatment of cutaneous neurofibromatosis: A retrospective patient satisfaction outcome assessment. J Plast Reconstr Aesthet Surg, 2016, 69(6): 765-769.
35.	Elwakil TF, Samy NA, Elbasiouny MS. Non-excision treatment of multiple cutaneous neurofibromas by laser photocoagulation. Lasers Med Sci, 2008, 23(3): 301-306.
36.	Friedrich RE, Schmelzle R, Hartmann M, et al. Resection of small plexiform neurofibromas in neurofibromatosis type 1 children. World J Surg Oncol, 2005, 3(1): 6. doi: 10.1186/1477-7819-3-6.
37.	Vélez R, Barrera-Ochoa S, Barastegui D, et al. Multidisciplinary management of a giant plexiform neurofibroma by double sequential preoperative embolization and surgical resection. Case Rep Neurol Med, 2013, 2013: 987623. doi: 10.1155/2013/987623.
38.	Tovo Filho R, Carnevale FC, Curi TZ, et al. Surgery combined with embolization in the treatment of plexiform neurofibroma: Case report and literature review. JAAD Case Rep, 2020, 6(5): 462-464.
39.	Robertson KA, Nalepa G, Yang FC, et al. Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. Lancet Oncol, 2012, 13(12): 1218-1224.
40.	Jakacki RI, Dombi E, Steinberg SM, et al. Phase Ⅱ trial of pegylated interferon alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas. Neuro Oncol, 2017, 19(2): 289-297.
41.	Weiss BD, Wolters PL, Plotkin SR, et al. NF106: A neurofibromatosis clinical trials consortium phase Ⅱ trial of the MEK inhibitor mirdametinib (PD-0325901) in adolescents and adults with NF1-related plexiform neurofibromas. J Clin Oncol, 2021, 39(7): 797-806.
42.	Gross AM, Wolters PL, Dombi E, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med, 2020, 382(15): 1430-1442.
43.	Salamon J, Mautner VF, Adam G, et al. Multimodal imaging in neurofibromatosis type 1-associated nerve sheath tumors. Rofo, 2015, 187(12): 1084-1092.
44.	Dunn GP, Spiliopoulos K, Plotkin SR, et al. Role of resection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis type 1. J Neurosurg, 2013, 118(1): 142-148.
45.	Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res, 2002, 62(5): 1573-1577.
46.	Kroep JR, Ouali M, Gelderblom H, et al. First-line chemotherapy for malignant peripheral nerve sheath tumor (MPNST) versus other histological soft tissue sarcoma subtypes and as a prognostic factor for MPNST: an EORTC soft tissue and bone sarcoma group study. Ann Oncol, 2011, 22(1): 207-214.
47.	Blazo MA, Lewis RA, Chintagumpala MM, et al. Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1. Am J Med Genet A, 2004, 127A(3): 224-229.
48.	Listernick R, Charrow J. Knowledge without truth: screening for complications of neurofibromatosis type 1 in childhood. Am J Med Genet A, 2004, 127A(3): 221-223.
49.	Packer RJ, Ater J, Allen J, et al. Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. J Neurosurg, 1997, 86(5): 747-754.
50.	Banerjee A, Jakacki RI, Onar-Thomas A, et al. A phase Ⅰ trial of the MEK inhibitor selumetinib (AZD6244) in pediatric patients with recurrent or refractory low-grade glioma: a Pediatric Brain Tumor Consortium (PBTC) study. Neuro Oncol, 2017, 19(8): 1135-1144.
51.	Gururangan S, Fangusaro J, Poussaint TY, et al. Efficacy of bevacizumab plus irinotecan in children with recurrent low-grade gliomas-a Pediatric Brain Tumor Consortium study. Neuro Oncol, 2014, 16(2): 310-317.
52.	Mussi C, Schildhaus HU, Gronchi A, et al. Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1. Clin Cancer Res, 2008, 14(14): 4550-4555.
53.	Kalender M, Sevinc A, Tutar E, et al. Effect of sunitinib on metastatic gastrointestinal stromal tumor in patients with neurofibromatosis type 1: a case report. World J Gastroenterol, 2007, 13(18): 2629-2632.
54.	Lázaro C, Gaona A, Lynch M, et al. Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. Am J Hum Genet, 1995, 57(5): 1044-1049.
55.	Bottillo I, Torrente I, Lanari V, et al. Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. Am J Med Genet A, 2010, 152A(6): 1467-1473.
56.	Trevisson E, Forzan M, Salviati L, et al. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism. Clin Genet, 2014, 85(4): 386-389.
57.	García-Romero MT, Parkin P, Lara-Corrales I. Mosaic neurofibromatosis type 1: A systematic review. Pediatr Dermatol, 2016, 33(1): 9-17.
58.	Ejerskov C, Farholt S, Skovby F, et al. Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor. Clin Genet, 2016, 89(3): 346-350.
59.	Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Med Genet, 1996, 66(1): 7-10.
60.	Terry AR, Barker FG, Leffert L, et al. Neurofibromatosis type 1 and pregnancy complications: a population-based study. Am J Obstet Gynecol, 2013, 209(1): 46.e1-e8.
61.	Segal D, Holcberg G, Sapir O, et al. Neurofibromatosis in pregnancy. Maternal and perinatal outcome. Eur J Obstet Gynecol Reprod Biol, 1999, 84(1): 59-61.
62.	Radtke HB, Sebold CD, Allison C, et al. Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns, 2007, 16(4): 387-407.

1. No authors listed. National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md. , USA, July 13-15, 1987. Neurofibromatosis, 1988, 1(3): 172-178.
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. Ferner RE, Gutmann DH. Neurofibromatosis type 1 (NF1): diagnosis and management. Handb Clin Neurol, 2013, 115: 939-955.
4. DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics, 2000, 105(3Pt1): 608-614.
5. 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.
6. Cooper DN, Upadhyaya M. The germline mutational spectrum in neurofibromatosis type 1 and genotype–phenotype correlations//Upadhyaya M, Cooper DN. Neurofibromatosis type 1: Molecular and cellular biology. Berlin, Heidelberg: Springer, 2012: 115-134.
7. Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c. 2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet, 2007, 80(1): 140-151.
8. Rojnueangnit K, Xie J, Gomes A, et al. High incidence of noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p. Arg1809: Genotype-phenotype correlation. Hum Mutat, 2015, 36(11): 1052-1063.
9. Pasmant E, Sabbagh A, Spurlock G, et al. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat, 2010, 31(6): E1506-1518.
10. Koczkowska M, Chen Y, Callens T, et al. Genotype-phenotype correlation in NF1: Evidence for a more severe phenotype associated with missense mutations affecting nf1 codons 844-848. Am J Hum Genet, 2018, 102(1): 69-87.
11. Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat, 2000, 15(6): 541-555.
12. Assunto A, Ferrara U, De Luca A, et al. Isoform-specific NF1 mRNA levels correlate with disease severity in neurofibromatosis type 1. Orphanet J Rare Dis, 2019, 14(1): 261. doi: 10.1186/s13023-019-1223-1.
13. Sabbagh A, Pasmant E, Imbard A, et al. NF1 molecular characterization and neurofibromatosis type Ⅰ genotype-phenotype correlation: the French experience. Hum Mutat, 2013, 34(11): 1510-1518.
14. Pasmant E, Vidaud M, Vidaud D, et al. Neurofibromatosis type 1: from genotype to phenotype. J Med Genet, 2012, 49(8): 483-489.
15. Messiaen L, Vogt J, Bengesser K, et al. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat, 2011, 32(2): 213-219.
16. Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology, 2001, 56(11): 1433-1443.
17. Tinschert S, Naumann I, Stegmann E, et al. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet, 2000, 8(6): 455-459.
18. Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis type 1. Nat Rev Dis Primers, 2017, 3: 17004. doi: 10.1038/nrdp.2017.4.
19. Dunning-Davies BM, Parker APJ. Annual review of children with neurofibromatosis type 1. Arch Dis Child Educ Pract Ed, 2016, 101(2): 102-111.
20. 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.
21. Gross AM, Singh G, Akshintala S, et al. Association of plexiform neurofibroma volume changes and development of clinical morbidities in neurofibromatosis 1. Neuro Oncol, 2018, 20(12): 1643-1651.
22. Stewart DR, Korf BR, Nathanson KL, et al. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 2018, 20(7): 671-682.
23. Amar L, Servais A, Gimenez-Roqueplo AP, et al. Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma. J Clin Endocrinol Metab, 2005, 90(4): 2110-2116.
24. Képénékian L, Mognetti T, Lifante JC, et al. Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1. Eur J Endocrinol, 2016, 175(4): 335-344.
25. Petr EJ, Else T. Pheochromocytoma and paraganglioma in neurofibromatosis type 1: frequent surgeries and cardiovascular crises indicate the need for screening. Clin Diabetes Endocrinol, 2018, 4: 15.
26. Brems H, Chmara M, Sahbatou M, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet, 2007, 39(9): 1120-1126.
27. Dumitrescu CE, Collins MT. McCune-albright syndrome. Orphanet J Rare Dis, 2008, 3: 12. doi: 10.1186/1750-1172-3-12.
28. Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet, 2009, 373(9679): 1974-1986.
29. Roberts AE, Allanson JE, Tartaglia M, et al. Noonan syndrome. Lancet, 2013, 381(9863): 333-342.
30. Suerink M, Ripperger T, Messiaen L, et al. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy. J Med Genet, 2019, 56(2): 53-62.
31. Bergqvist C, Servy A, Valeyrie-Allanore L, et al. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis, 2020, 15(1): 37. doi: 10.1186/s13023-020-1310-3.
32. Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet, 2007, 44(2): 81-88.
33. Moreno JC, Mathoret C, Lantieri L, et al. Carbon dioxide laser for removal of multiple cutaneous neurofibromas. Br J Dermatol, 2001, 144(5): 1096-1098.
34. Lutterodt CG, Mohan A, Kirkpatrick N. The use of electrodessication in the treatment of cutaneous neurofibromatosis: A retrospective patient satisfaction outcome assessment. J Plast Reconstr Aesthet Surg, 2016, 69(6): 765-769.
35. Elwakil TF, Samy NA, Elbasiouny MS. Non-excision treatment of multiple cutaneous neurofibromas by laser photocoagulation. Lasers Med Sci, 2008, 23(3): 301-306.
36. Friedrich RE, Schmelzle R, Hartmann M, et al. Resection of small plexiform neurofibromas in neurofibromatosis type 1 children. World J Surg Oncol, 2005, 3(1): 6. doi: 10.1186/1477-7819-3-6.
37. Vélez R, Barrera-Ochoa S, Barastegui D, et al. Multidisciplinary management of a giant plexiform neurofibroma by double sequential preoperative embolization and surgical resection. Case Rep Neurol Med, 2013, 2013: 987623. doi: 10.1155/2013/987623.
38. Tovo Filho R, Carnevale FC, Curi TZ, et al. Surgery combined with embolization in the treatment of plexiform neurofibroma: Case report and literature review. JAAD Case Rep, 2020, 6(5): 462-464.
39. Robertson KA, Nalepa G, Yang FC, et al. Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial. Lancet Oncol, 2012, 13(12): 1218-1224.
40. Jakacki RI, Dombi E, Steinberg SM, et al. Phase Ⅱ trial of pegylated interferon alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas. Neuro Oncol, 2017, 19(2): 289-297.
41. Weiss BD, Wolters PL, Plotkin SR, et al. NF106: A neurofibromatosis clinical trials consortium phase Ⅱ trial of the MEK inhibitor mirdametinib (PD-0325901) in adolescents and adults with NF1-related plexiform neurofibromas. J Clin Oncol, 2021, 39(7): 797-806.
42. Gross AM, Wolters PL, Dombi E, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med, 2020, 382(15): 1430-1442.
43. Salamon J, Mautner VF, Adam G, et al. Multimodal imaging in neurofibromatosis type 1-associated nerve sheath tumors. Rofo, 2015, 187(12): 1084-1092.
44. Dunn GP, Spiliopoulos K, Plotkin SR, et al. Role of resection of malignant peripheral nerve sheath tumors in patients with neurofibromatosis type 1. J Neurosurg, 2013, 118(1): 142-148.
45. Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res, 2002, 62(5): 1573-1577.
46. Kroep JR, Ouali M, Gelderblom H, et al. First-line chemotherapy for malignant peripheral nerve sheath tumor (MPNST) versus other histological soft tissue sarcoma subtypes and as a prognostic factor for MPNST: an EORTC soft tissue and bone sarcoma group study. Ann Oncol, 2011, 22(1): 207-214.
47. Blazo MA, Lewis RA, Chintagumpala MM, et al. Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1. Am J Med Genet A, 2004, 127A(3): 224-229.
48. Listernick R, Charrow J. Knowledge without truth: screening for complications of neurofibromatosis type 1 in childhood. Am J Med Genet A, 2004, 127A(3): 221-223.
49. Packer RJ, Ater J, Allen J, et al. Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. J Neurosurg, 1997, 86(5): 747-754.
50. Banerjee A, Jakacki RI, Onar-Thomas A, et al. A phase Ⅰ trial of the MEK inhibitor selumetinib (AZD6244) in pediatric patients with recurrent or refractory low-grade glioma: a Pediatric Brain Tumor Consortium (PBTC) study. Neuro Oncol, 2017, 19(8): 1135-1144.
51. Gururangan S, Fangusaro J, Poussaint TY, et al. Efficacy of bevacizumab plus irinotecan in children with recurrent low-grade gliomas-a Pediatric Brain Tumor Consortium study. Neuro Oncol, 2014, 16(2): 310-317.
52. Mussi C, Schildhaus HU, Gronchi A, et al. Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1. Clin Cancer Res, 2008, 14(14): 4550-4555.
53. Kalender M, Sevinc A, Tutar E, et al. Effect of sunitinib on metastatic gastrointestinal stromal tumor in patients with neurofibromatosis type 1: a case report. World J Gastroenterol, 2007, 13(18): 2629-2632.
54. Lázaro C, Gaona A, Lynch M, et al. Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. Am J Hum Genet, 1995, 57(5): 1044-1049.
55. Bottillo I, Torrente I, Lanari V, et al. Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. Am J Med Genet A, 2010, 152A(6): 1467-1473.
56. Trevisson E, Forzan M, Salviati L, et al. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism. Clin Genet, 2014, 85(4): 386-389.
57. García-Romero MT, Parkin P, Lara-Corrales I. Mosaic neurofibromatosis type 1: A systematic review. Pediatr Dermatol, 2016, 33(1): 9-17.
58. Ejerskov C, Farholt S, Skovby F, et al. Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor. Clin Genet, 2016, 89(3): 346-350.
59. Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Med Genet, 1996, 66(1): 7-10.
60. Terry AR, Barker FG, Leffert L, et al. Neurofibromatosis type 1 and pregnancy complications: a population-based study. Am J Obstet Gynecol, 2013, 209(1): 46.e1-e8.
61. Segal D, Holcberg G, Sapir O, et al. Neurofibromatosis in pregnancy. Maternal and perinatal outcome. Eur J Obstet Gynecol Reprod Biol, 1999, 84(1): 59-61.
62. Radtke HB, Sebold CD, Allison C, et al. Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns, 2007, 16(4): 387-407.

Chinese Journal of Reparative and Reconstructive Surgery

Expert consensus on diagnosis and management of neurofibromatosis type 1 (2021 edition)

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