Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study

Cecilie Ejerskov; Stense Farholt; Flemming Secher Kromann Nielsen; Ingunn Berg; Stine Bogetofte Thomasen; Aparna Udupi; Trude Ågesen; Sofie de Fine Licht; Mette Møller Handrup

doi:10.1007/s40487-022-00213-4

Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study

Cecilie Ejerskov^*, Stense Farholt, Flemming Secher Kromann Nielsen, Ingunn Berg, Stine Bogetofte Thomasen, Aparna Udupi, Trude Ågesen, Sofie de Fine Licht, Mette Møller Handrup

^*Corresponding author for this work

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

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Abstract

Introduction: Plexiform neurofibromas (PN) are benign nerve sheath tumours that are a frequent and potentially debilitating complication in patients with neurofibromatosis type 1 (NF1). The objective of this study was to describe the natural history of PN in children, adolescents and adults with NF1. Methods: This was a nationwide, longitudinal cohort study of patients with NF1 under observation at the two national centres of NF1 expertise in Denmark between 2000 and 2020. Patient and clinical characteristics were documented from individual medical records. Results: A total of 1099 patients with NF1 were included. Overall, 12% (35/296) of paediatric patients and 21% (172/803) of adult patients had ≥ 1 large PN (≥ 3 cm). Approximately half of patients with a large PN had ≥ 1 symptomatic PN. The most frequent symptoms were pain, neurological deficits, cosmetic issues, disfigurement, compression, increased psychosocial burden and vision loss. Clinical evaluations of PN size were available for 40 PN in 34 paediatric patients and 191 PN in 159 adult patients with large PN. Surgery (complete resection or debulking) was performed in 38% (15/40) of PN in paediatric patients and 45% (86/191) in adult patients. In addition, 35% of PN in paediatric patients and 33% in adult patients were inoperable. In a subgroup analysis, the overall PN size increased 1.06-fold per year. Malignant peripheral nerve sheath tumours (MPNST) were diagnosed in 21 patients (two paediatric and 19 adult patients). Conclusions: This study shows that PN are common, their size and prevalence increase with age, many are often inoperable and pain and other symptoms are frequently associated. The results highlight the severe sequelae and unmet need for alternatives to analgesia and surgery in patients with PN.

Original language	English
Journal	Oncology and Therapy
Volume	11
Issue	1
Pages (from-to)	97-110
Number of pages	14
ISSN	2366-1070
DOIs	https://doi.org/10.1007/s40487-022-00213-4
Publication status	Published - Mar 2023

Keywords

Epidemiology
Malignant peripheral nerve sheath tumour
Neurofibromatosis type 1
Plexiform neurofibromas

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Ejerskov, C., Farholt, S., Nielsen, F. S. K., Berg, I., Thomasen, S. B., Udupi, A., Ågesen, T., de Fine Licht, S., & Handrup, M. M. (2023). Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study. Oncology and Therapy, 11(1), 97-110. https://doi.org/10.1007/s40487-022-00213-4

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title = "Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study",

abstract = "Introduction: Plexiform neurofibromas (PN) are benign nerve sheath tumours that are a frequent and potentially debilitating complication in patients with neurofibromatosis type 1 (NF1). The objective of this study was to describe the natural history of PN in children, adolescents and adults with NF1. Methods: This was a nationwide, longitudinal cohort study of patients with NF1 under observation at the two national centres of NF1 expertise in Denmark between 2000 and 2020. Patient and clinical characteristics were documented from individual medical records. Results: A total of 1099 patients with NF1 were included. Overall, 12% (35/296) of paediatric patients and 21% (172/803) of adult patients had ≥ 1 large PN (≥ 3 cm). Approximately half of patients with a large PN had ≥ 1 symptomatic PN. The most frequent symptoms were pain, neurological deficits, cosmetic issues, disfigurement, compression, increased psychosocial burden and vision loss. Clinical evaluations of PN size were available for 40 PN in 34 paediatric patients and 191 PN in 159 adult patients with large PN. Surgery (complete resection or debulking) was performed in 38% (15/40) of PN in paediatric patients and 45% (86/191) in adult patients. In addition, 35% of PN in paediatric patients and 33% in adult patients were inoperable. In a subgroup analysis, the overall PN size increased 1.06-fold per year. Malignant peripheral nerve sheath tumours (MPNST) were diagnosed in 21 patients (two paediatric and 19 adult patients). Conclusions: This study shows that PN are common, their size and prevalence increase with age, many are often inoperable and pain and other symptoms are frequently associated. The results highlight the severe sequelae and unmet need for alternatives to analgesia and surgery in patients with PN.",

keywords = "Epidemiology, Malignant peripheral nerve sheath tumour, Neurofibromatosis type 1, Plexiform neurofibromas",

author = "Cecilie Ejerskov and Stense Farholt and Nielsen, {Flemming Secher Kromann} and Ingunn Berg and Thomasen, {Stine Bogetofte} and Aparna Udupi and Trude {\AA}gesen and {de Fine Licht}, Sofie and Handrup, {Mette M{\o}ller}",

year = "2023",

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doi = "10.1007/s40487-022-00213-4",

language = "English",

volume = "11",

pages = "97--110",

journal = "Oncology and Therapy",

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Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study. / Ejerskov, Cecilie; Farholt, Stense; Nielsen, Flemming Secher Kromann et al.
In: Oncology and Therapy, Vol. 11, No. 1, 03.2023, p. 97-110.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark

T2 - A Nationwide Study

AU - Ejerskov, Cecilie

AU - Farholt, Stense

AU - Nielsen, Flemming Secher Kromann

AU - Berg, Ingunn

AU - Thomasen, Stine Bogetofte

AU - Udupi, Aparna

AU - Ågesen, Trude

AU - de Fine Licht, Sofie

AU - Handrup, Mette Møller

PY - 2023/3

Y1 - 2023/3

N2 - Introduction: Plexiform neurofibromas (PN) are benign nerve sheath tumours that are a frequent and potentially debilitating complication in patients with neurofibromatosis type 1 (NF1). The objective of this study was to describe the natural history of PN in children, adolescents and adults with NF1. Methods: This was a nationwide, longitudinal cohort study of patients with NF1 under observation at the two national centres of NF1 expertise in Denmark between 2000 and 2020. Patient and clinical characteristics were documented from individual medical records. Results: A total of 1099 patients with NF1 were included. Overall, 12% (35/296) of paediatric patients and 21% (172/803) of adult patients had ≥ 1 large PN (≥ 3 cm). Approximately half of patients with a large PN had ≥ 1 symptomatic PN. The most frequent symptoms were pain, neurological deficits, cosmetic issues, disfigurement, compression, increased psychosocial burden and vision loss. Clinical evaluations of PN size were available for 40 PN in 34 paediatric patients and 191 PN in 159 adult patients with large PN. Surgery (complete resection or debulking) was performed in 38% (15/40) of PN in paediatric patients and 45% (86/191) in adult patients. In addition, 35% of PN in paediatric patients and 33% in adult patients were inoperable. In a subgroup analysis, the overall PN size increased 1.06-fold per year. Malignant peripheral nerve sheath tumours (MPNST) were diagnosed in 21 patients (two paediatric and 19 adult patients). Conclusions: This study shows that PN are common, their size and prevalence increase with age, many are often inoperable and pain and other symptoms are frequently associated. The results highlight the severe sequelae and unmet need for alternatives to analgesia and surgery in patients with PN.

AB - Introduction: Plexiform neurofibromas (PN) are benign nerve sheath tumours that are a frequent and potentially debilitating complication in patients with neurofibromatosis type 1 (NF1). The objective of this study was to describe the natural history of PN in children, adolescents and adults with NF1. Methods: This was a nationwide, longitudinal cohort study of patients with NF1 under observation at the two national centres of NF1 expertise in Denmark between 2000 and 2020. Patient and clinical characteristics were documented from individual medical records. Results: A total of 1099 patients with NF1 were included. Overall, 12% (35/296) of paediatric patients and 21% (172/803) of adult patients had ≥ 1 large PN (≥ 3 cm). Approximately half of patients with a large PN had ≥ 1 symptomatic PN. The most frequent symptoms were pain, neurological deficits, cosmetic issues, disfigurement, compression, increased psychosocial burden and vision loss. Clinical evaluations of PN size were available for 40 PN in 34 paediatric patients and 191 PN in 159 adult patients with large PN. Surgery (complete resection or debulking) was performed in 38% (15/40) of PN in paediatric patients and 45% (86/191) in adult patients. In addition, 35% of PN in paediatric patients and 33% in adult patients were inoperable. In a subgroup analysis, the overall PN size increased 1.06-fold per year. Malignant peripheral nerve sheath tumours (MPNST) were diagnosed in 21 patients (two paediatric and 19 adult patients). Conclusions: This study shows that PN are common, their size and prevalence increase with age, many are often inoperable and pain and other symptoms are frequently associated. The results highlight the severe sequelae and unmet need for alternatives to analgesia and surgery in patients with PN.

KW - Epidemiology

KW - Malignant peripheral nerve sheath tumour

KW - Neurofibromatosis type 1

KW - Plexiform neurofibromas

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U2 - 10.1007/s40487-022-00213-4

DO - 10.1007/s40487-022-00213-4

M3 - Journal article

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SN - 2366-1070

VL - 11

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JO - Oncology and Therapy

JF - Oncology and Therapy

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Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study

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