Optic pathway gliomas in neurofibromatosis‐1: Controversies and recommendations

Abstract

Optic pathway glioma (OPG), seen in 15% to 20% of individuals with neurofibromatosis type 1 (NF1), account for significant morbidity in young children with NF1. Overwhelmingly a tumor of children younger than 7 years, OPG may present in individuals with NF1 at any age. Although many OPG may remain indolent and never cause signs or symptoms, others lead to vision loss, proptosis, or precocious puberty. Because the natural history and treatment of NF1-associated OPG is different from that of sporadic OPG in individuals without NF1, a task force composed of basic scientists and clinical researchers was assembled in 1997 to propose a set of guidelines for the diagnosis and management of NF1-associated OPG. This new review highlights advances in our understanding of the pathophysiology and clinical behavior of these tumors made over the last 10 years. Controversies in both the diagnosis and management of these tumors are examined. Finally, specific evidence-based recommendations are proposed for clinicians caring for children with NF1.

Screening children with NF1 for optic pathway glioma – Yes

“…13,14 This prompted the Listernick group to recommend this treatment. 2 There are currently a number of phase I and II trials in the United States looking a new treatments for OPG, including Everolimus (RAD001), 15 Erlotinib (Tarceva), 16 and Sirolimus (Rapamycin). 17 Rapamycin has been shown to cause regression of astrocytomas in tuberous sclerosis.…”

Optic pathway gliomas: a review

“…28 The NF1 OPG Task Force recommends yearly eye examinations in children with asymptomatic NF1 through the age of 6 years, 38,[41][42][43][44][45][46][47]79 whereas other authors recommend screening up to 10 years of age. 19,34,[41][42][43][44][45][46][47] This is true even in patients with NF1 and no findings on imaging studies, given that OPGs can become apparent even though previously obtained images did not revealed any findings. 53 In addition, because children may present with precocious puberty and accelerated linear growth, accurate growth charts are essential in patients with NF1.…”

“…53 In addition, because children may present with precocious puberty and accelerated linear growth, accurate growth charts are essential in patients with NF1. 45 …”

Health Supervision for Children With Neurofibromatosis

“…22 Treatment with carboplatin and vincristine sulfate has been effective in preventing further increase in tumor size and preserving remaining vision. 23 On the basis of the natural history of optic pathway tumors, the National Neurofibromatosis Foundation Optic Pathway Task Force previously has recommended against routine neuroimaging for all children with NF1; rather, yearly eye examination by either a pediatric ophthalmologist or an ophthalmologist who is knowledgeable of the ocular manifestations of NF1 has been advocated for all young children with NF1. 19,23 Lisch nodules (iris hamartomas) 12 usually develop in early adolescence, but they do not have any clinical significance (Fig 7).…”