Top

Oral and Maxillofacial Surgery

Published in:

Open Access 13-05-2023 | Neurofibromatosis Type 1 | Research

Neurofibromatosis type 1-associated plexiform neurofibromas of the neck: topography of lesions and surgical treatment data of 69 patients

Authors: Reinhard E. Friedrich, Daniel M. Löhmann

Published in: Oral and Maxillofacial Surgery | Issue 1/2024

Abstract

Purpose

Plexiform neurofibromas (PNF) are rare tumors arising from peripheral nerve sheath cells. PNF are a hallmark in patients with neurofibromatosis type 1 (NF1), a tumor predisposition syndrome. PNF often grow invasively and destructively, what may complicate surgical treatment. Data on frequency, location, and surgical procedures of patients with NF1-associated FPNF are scarce. This study provides treatment data of NF1 patients.

Methods

Localization and treatment data of 69 NF1 patients with neck PNF were analyzed. Frequency of lesions was recorded in coded colors on schematic neck drawings.

Results

The tumors showed no side preference, were located in the entire area under investigation, and did not respect anatomical units/dermatomes. However, the sternocleidomastoid region was particularly frequently affected. The mean number of surgical measures per patient was 1.33. Complications were extensive swelling, hematoma, and bleeding. Histological assessment usually confirmed the clinical assessment of neoplasm. However, histologic differentiation of PNST reveals differences in between tumors that have been unified in clinical assessment as PNF.

Conclusion

The color-coded, schematic overview of the frequency distribution of surgical neck interventions in NF1 patients with PNF proved a useful tool to gain assessment of preferred treatment needs. The imaging procedure may be suitable for controlling the external aspect of natural tumor development (growth, effects of aging) in the same way as the documentation of the post-surgical course. Treatment plans for patients with these tumors should consider that repeated interventions may be necessary to achieve a longer-term stable result.

Ferner RE, Gutmann DH (2013) Neurofibromatosis type 1 (NF1): diagnosis and management. Handb Clin Neurol 115:939–955. https://doi.org/10.1016/B978-0-444-52902-2.00053-9CrossRefPubMed

Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF (2002) NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas. Hum Mutat 19(3):309. https://doi.org/10.1002/humu.9018CrossRefPubMed

Huson SM, Compston DA, Harper PS (1989) A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. J Med Genet 26(11):712–721. https://doi.org/10.1136/jmg.26.11.712CrossRefPubMedPubMedCentral

Friedman JM, Birch PH (1997) Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet 70(2):138–143 (10.1002/(sici)1096-8628(19970516)70:2<138::aid-ajmg7>3.0.co;2-u)CrossRefPubMed

Kluwe L, Friedrich R, Mautner VF (1999) Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma. Genes Chromosom Cancer 24(3):283–285. https://doi.org/10.1002/(sici)1098-2264(199903)24:3<283::aid-gcc15>3.0.co;2-kCrossRefPubMed

Kluwe L, Friedrich RE, Mautner VF (1999) Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. Cancer Genet Cytogenet 113(1):65–69. https://doi.org/10.1016/s0165-4608(99)00006-0CrossRefPubMed

Collins-Sawaragi YC, Ferner R, Vassallo G, De Agrò G, Eccles S, Cadwgan J, Hargrave D, Hupton E, Eelloo J, Lunt L, Tang V, Burkitt Wright E, Lascelles K (2022) 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 188(6):1723–1727. https://doi.org/10.1002/ajmg.a.62691CrossRefPubMed

Fisher MJ, Blakeley JO, Weiss BD, Dombi E, Ahlawat S, Akshintala S, Belzberg AJ, Bornhorst M, Bredella MA, Cai W, Ferner RE, Gross AM, Harris GJ, Listernick R, Ly I, Martin S, Mautner VF, Salamon JM, Salerno KE et al (2022) Management of neurofibromatosis type 1-associated plexiform neurofibromas. Neuro Oncol 24(11):1827–1844. https://doi.org/noac146CrossRefPubMedPubMedCentral

Friedrich RE, Schmelzle R, Hartmann M, Fünsterer C, Mautner VF (2005) Resection of small plexiform neurofibromas in neurofibromatosis type 1 children. World J Surg Oncol 3(1):6. https://doi.org/10.1186/1477-7819-3-6CrossRefPubMedPubMedCentral

10.

Lubinsky MS (2006) Non-random associations and vascular fields in neurofibromatosis 1: a pathogenetic hypothesis. Am J Med Genet A 140(19):2080–2084. https://doi.org/10.1002/ajmg.a.31303CrossRefPubMed

11.

Carton C, Evans DG, Blanco I, Friedrich RE, Ferner RE, Farschtschi S, Salvador H, Azizi AA, Mautner V, Röhl C, Peltonen S, Stivaros S, Legius E, Oostenbrink R, ERN GENTURIS NF1 Tumour Management Guideline Group (2023) ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. EClinicalMedicine 56:101818. https://doi.org/10.1016/j.eclinm.2022.101818CrossRefPubMedPubMedCentral

12.

Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V et al (2021) Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med 23(8):1506–1513. https://doi.org/10.1038/s41436-021-01170-5CrossRefPubMedPubMedCentral

13.

Radlanski RJ, Wesker KH (2012) Das Gesicht. Bildatlas klinische Anatomie, 2nd edn. Quintessenz-Verlag, Berlin 4-5 and 178-179

14.

Aumüller G (2007) Duale Reihe Anatomie. In: Bob A, Bob B (eds) Duale Reihe Anatomie, 1st edn. Thieme, Stuttgart, p 905

15.

Hagel C, Behrens T, Prehm P, Schnabel C, Glatzel M, Friedrich RE (2012) Hyaluronan in intra-operative edema of NF1-associated neurofibromas. Neuropathology 32(4):406–414. https://doi.org/10.1111/j.1440-1789.2011.01276.xCrossRefPubMed

16.

Donner TR, Voorhies RM, Kline DG (1994) Neural sheath tumors of major nerves. J Neurosurg 81(3):362–373. https://doi.org/10.3171/jns.1994.81.3.0362CrossRefPubMed

17.

Janes LE, Sabino J, Matthews JA, Papadimitriou JC, Strome SE, Singh DP (2013) Surgical management of craniofacial neurofibromatosis type 1 associated tumors. J Craniofac Surg 24(4):1273–1277. https://doi.org/10.1097/SCS.0b013e318285d337CrossRefPubMed

18.

Wolkenstein P, Mitrofanoff M, Lantieri L, Zeller J, Wechsler J, Boui M, Revuz J, Mansat E, Stalder JF (2001) Bleeding: a complication of neurofibromatosis 1 tumors. Arch Dermatol 137(2):233–234PubMed

19.

Hivelin M, Plaud B, Hemery F, Boulat C, Ortonne N, Valleyrie-Allanore L, Wolkenstein P, Lantieri L (2016) Low rates of blood transfusion in elective resections of neurofibromas in a cohort study: neurofibroma length as a predictor of transfusion requirement. Plast Reconstr Surg 137(4):700e–711e. https://doi.org/10.1097/PRS.0000000000002021CrossRefPubMed

20.

Miyawaki T, Billings B, Har-Shai Y, Agbenorku P, Kokuba E, Moreira-Gonzalez A, Tsukuno M, Kurihara K, Jackson IT (2007) Multicenter study of wound healing in neurofibromatosis and neurofibroma. J Craniofac Surg 18(5):1008–1011. https://doi.org/10.1097/scs.0b013e31811f3587CrossRefPubMed

21.

Kim DH, Murovic JA, Tiel RL, Moes G, Kline DG (2005) A series of 397 peripheral neural sheath tumors: 30-year experience at Louisiana State University Health Sciences Center. J Neurosurg 102(2):246–255. https://doi.org/10.3171/jns.2005.102.2.0246CrossRefPubMed

22.

Desai KI (2017) The surgical management of symptomatic benign peripheral nerve sheath tumors of the neck and extremities: an experience of 442 cases. Neurosurgery 81(4):568–580. https://doi.org/10.1093/neuros/nyx076CrossRefPubMed

23.

Friedrich RE, Diekmeier C (2017) Peripheral nerve sheath tumors of the upper extremity and hand in patients with neurofibromatosis type 1: topography of tumors and evaluation of surgical treatment in 62 patients. GMS Interdiscip Plast Reconstr Surg DGPW 6. https://doi.org/10.3205/iprs000117

24.

Friedrich RE, Tuzcu CT (2021) Surgery for peripheral nerve sheath tumours of the buttocks, legs and feet in 90 patients with neurofibromatosis type 1. In Vivo 35(2):889–905. https://doi.org/10.21873/invivo.12329CrossRefPubMedPubMedCentral

25.

Ehara Y, Koga M, Imafuku S, Yamamoto O, Yoshida Y (2020) Distribution of diffuse plexiform neurofibroma on the body surface in patients with neurofibromatosis 1. J Dermatol 47(2):190–192. https://doi.org/10.1111/1346-8138.15194CrossRefPubMed

26.

Friedrich RE, Lehmann JM, Rother J, Christ G, Zu Eulenburg C, Scheuer HT, Scheuer HA (2017) A lateral cephalometry study of patients with neurofibromatosis type 1. J Craniomaxillofac Surg 45(6):809–820. https://doi.org/10.1016/j.jcms.2017.02.011CrossRefPubMed

27.

Greig AV, Kirkpatrick NA, Joshi N, Kelly M, Waterhouse N (2009) Giant hemifacial plexiform neurofibroma arising from trigeminal ganglion. J Craniofac Surg 20(3):833–836. https://doi.org/10.1097/scs.0b013e3181a28a19CrossRefPubMed

28.

Friedrich RE, Korf B, Fünsterer C, Mautner VF (2003) Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images. Anticancer Res 23(2A):949–952PubMed

29.

Mautner VF, Hartmann M, Kluwe L, Friedrich RE, Fünsterer C (2006) MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1. Neuroradiology 48(3):160–165. https://doi.org/10.1007/s00234-005-0033-4CrossRefPubMed

30.

Lim R, Jaramillo D, Poussaint TY, Chang Y, Korf B (2005) Superficial neurofibroma: a lesion with unique MRI characteristics in patients with neurofibromatosis type 1. AJR Am J Roentgenol 184(3):962–968. https://doi.org/10.2214/ajr.184.3.01840962CrossRefPubMed

31.

Scheithauer BW, Woodruff JM, Erlandson RA (1999) Tumors of the peripheral nervous system. Third series, fascicle 24 (AFIP atlas of tumor pathology). American Registry of Pathology, Washington DC pp. 177-218, 303-56, 385-404

32.

Friedrich RE, Nörnberg LKN, Hagel C (2022) Peripheral nerve sheath tumors in patients with neurofibromatosis type 1: Morphological and immunohistochemical study. Anticancer Res 42(3):1247–1261. https://doi.org/10.21873/anticanres.15592CrossRefPubMed

33.

O’Keefe P, Reid J, Morrison S, Vidimos A, DiFiore J (2005) Unexpected diagnosis of superficial neurofibroma in a lesion with imaging features of a vascular malformation. Pediatr Radiol 35(12):1250–1253. https://doi.org/10.1007/s00247-005-1565-9CrossRefPubMed

34.

Inoue T, Kuwashiro M, Misago N, Narisawa Y (2004) Superficial malignant peripheral nerve sheath tumor arising from diffuse neurofibroma in a neurofibromatosis type 1 patient. J Dermatol 41(7):631–633. https://doi.org/10.1111/1346-8138.12536CrossRef

35.

Hsu CK, Denadai R, Chang CS, Yao CF, Chen YA, Chou PY, Lo LJ, Chen YR (2022) The number of surgical interventions and specialists involved in the management of patients with neurofibromatosis type I: a 25-year analysis. J Pers Med 12(4):558. https://doi.org/10.3390/jpm12040558CrossRefPubMedPubMedCentral

36.

Neville HL, Seymour-Dempsey K, Slopis J, Gill BS, Moore BD, Lally KP, Andrassy RJ (2001) The role of surgery in children with neurofibromatosis. J Pediatr Surg 36(1):25–29. https://doi.org/10.1053/jpsu.2001.19996CrossRefPubMed

Title: Neurofibromatosis type 1-associated plexiform neurofibromas of the neck: topography of lesions and surgical treatment data of 69 patients
Authors: Reinhard E. Friedrich
Daniel M. Löhmann
Publication date: 13-05-2023
Publisher: Springer Berlin Heidelberg
Keyword: Neurofibromatosis Type 1
Published in: Oral and Maxillofacial Surgery / Issue 1/2024
Print ISSN: 1865-1550
Electronic ISSN: 1865-1569
DOI: https://doi.org/10.1007/s10006-023-01155-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Neurofibromatosis type 1-associated plexiform neurofibromas of the neck: topography of lesions and surgical treatment data of 69 patients

Abstract

Purpose

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

Please log in to get access to this content

Other articles of this Issue 1/2024

The association of travel distance and severity of odontogenic infections

Comparative evaluation of the efficacy of Nigella sativa (75% v/v) cream and clobetasol propionate (0.05% w/w) gel in oral lichen planus—a double-blinded randomized control trial

Head and neck mucosal melanoma: radiological considerations and UK imaging guidelines

Influence of botulinum toxin A in pain perception and condyle-fossa relationship after the management of temporomandibular dysfunction: a randomized controlled clinical trial

Biological marker for the establishment of periodontal disease: cross-sectional study in the gingival tissue

Esthetic restoration of progressive hemifacial atrophy (Parry-Romberg disease) by free fat grafting using computerized-assisted mapping