The management of neurofibromatosis type 1 (NF1) in children and adolescents

ABSTRACT

Introduction

Neurofibromatosis type 1 (NF1) is a rare neurogenetic disorder characterized by multiple organ system involvement and a predisposition to benign and malignant tumor development. With revised NF1 clinical criteria and the availability of germline genetic testing, there is now an opportunity to render an early diagnosis, expedite medical surveillance, and initiate treatment in a prompt and targeted manner.

Areas covered

The authors review the spectrum of medical problems associated with NF1, focusing specifically on children and young adults. The age-dependent appearance of NF1-associated features is highlighted, and the currently accepted medical treatments are discussed. Additionally, future directions for optimizing the care of this unique population of children are outlined.

Expert opinion

The appearance of NF1-related medical problems is age dependent, requiring surveillance for those features most likely to occur at any given age during childhood. As such, we advocate a life stage-focused screening approach beginning in infancy and continuing through the transition to adult care. With early detection, it becomes possible to promptly institute therapies and reduce patient morbidity. Importantly, with continued advancement in our understanding of disease pathogenesis, future improvements in the care of children with NF1 might incorporate improved risk assessments and more personalized molecularly targeted treatments.

KEYWORDS:

• Neurofibromatosis
• NF1
• plexiform neurofibroma
• optic pathway glioma
• management

Article highlights

• Neurofibromatosis type 1 (NF1) is a complex genetic disorder characterized by extreme clinical variability.

• Updated NF1 diagnostic criteria now incorporate genetic testing.

• The establishment of a clinical trials consortium has streamlined the evaluation of promising agents for the treatment of common medical problems arising in children and teenagers with NF1.

• The management of children and young adults with NF1 should entail age-specific monitoring.

• Future research should focus on adolescent/young adult transition to adult care.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.