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. 2022 Feb;43(2):1281-1293.
doi: 10.1007/s10072-021-05361-5. Epub 2021 Jun 18.

Epidemiological and clinical burden associated with plexiform neurofibromas in pediatric neurofibromatosis type-1 (NF-1): a systematic literature review

Ike Iheanacho  1 , Hyun Kyoo Yoo  2 , Xiaoqin Yang  3 , Sophie Dodman  4 , Rachel Hughes  4 , Suvina Amin  2
Affiliations

Epidemiological and clinical burden associated with plexiform neurofibromas in pediatric neurofibromatosis type-1 (NF-1): a systematic literature review

Ike Iheanacho et al. Neurol Sci. 2022 Feb.

Abstract

Purpose: Patients with neurofibromatosis type-1 (NF-1) and associated plexiform neurofibromas (PNs) often have a high burden of illness owing to debilitating symptoms of these tumors and limited management options. To investigate this complex disease, a systematic literature review (SLR) was conducted on the epidemiology of pediatric NF-1 and associated PNs, the burden of illness, and outcomes of surgical resection of these tumors.

Methods: Searches of MEDLINE and Embase (from database inception to October 2019) and conference proceedings (2017-2019) were performed to identify relevant studies. The review methodology was informed by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.

Results: Twenty studies were identified. Evidence confirmed NF-1 is rare but that occurrence may differ geographically. Only limited data on the birth incidence of NF-1 were identified. Prevalence estimates for pediatric NF-1 varied from one per 960 individuals (aged 17 years) to one per 5681 children (aged < 16 years) across five large registry/surveillance studies (each involving > 19,000 individuals). The prevalence of associated PNs was 0-29.6%. PNs carried increased mortality risk in pediatric NF-1 in both studies that explored this potential association. Patients with PNs reported high use of analgesics. The complication rate post-surgery for PNs was around 17-19%. The recurrence rate (18-68%) was dependent on the extent of excision achieved during surgery.

Conclusions: Data suggest NF-1 is a rare disease with increased morbidity and mortality in children with associated PNs. Surgical outcomes for PNs are often poor. These findings suggest significant unmet needs in patients with NF-1-associated PNs.

Keywords: Burden; Epidemiology; Neurofibromatosis type-1; Plexiform neurofibroma; Pediatric.

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Conflict of interest statement

H.K.Y. and S.A. are employed by AstraZeneca and own stock. X.Y. is an employee of Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA, and owns stock in Merck & Co., Inc., Kenilworth, NJ, USA. I.I., S.D., and R.H. are employed by Evidera, which provides consulting and other research services to pharmaceutical, medical device, and related organizations. In their salaried positions, they work with a variety of companies and organizations and are precluded from receiving payment or honoraria directly from these organizations for services rendered. Evidera received funding from AstraZeneca and Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA, to participate in the study and to provide medical writing support for dissemination of this manuscript. All authors participated in data analysis and interpretation and contributed to the development of the manuscript.

Figures

Fig. 1
Fig. 1
PRISMA diagram. Abbreviations: PRISMA, Preferred Reporting Items for Systematic Reviews and Meta-Analyses; SLR, systematic literature review
Fig. 2
Fig. 2
Overview of the outcomes reported in included studies. *Studies report tumor recurrence
See this image and copyright information in PMC

References

    1. Anderson JL, Gutman DH. Neurofibromatosis type 1. Handb Clin Neurol. 2015;132(3):75–86. doi: 10.1016/B978-0-444-62702-5.00004-4. - DOI - PubMed
    1. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009;61(1):1-14–15–16. doi: 10.1016/j.jaad.2008.12.051. - DOI - PMC - PubMed
    1. Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13(8):834–843. doi: 10.1016/S1474-4422(14)70063-8. - DOI - PubMed
    1. Korf BR. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477–485. doi: 10.1634/theoncologist.5-6-477. - DOI - PubMed
    1. Kim A, Gillespie A, Dombi E, Goodwin A, Goodspeed W, Fox E, Balis FM, Widemann BC. Characteristics of children enrolled in treatment trials for NF1-related plexiform neurofibromas. Neurology. 2009;73(16):1273–1279. doi: 10.1212/WNL.0b013e3181bd1326. - DOI - PMC - PubMed

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