Early diagnosis of optic glioma in children with neurofibromatosis type 1

Rossi, Livia N.; Pastorino, G; Scotti, Giuseppe; Gazocchi, M.; Maninetti, M. M.; Zanolini, C; Chiodi, A.

doi:10.1007/bf00303606

Cited by 30 publications

(13 citation statements)

References 13 publications

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“…Most of the children had abnormal ophthalmological findings on examination and the authors acknowledged that reliable results may not be obtained in children younger than 5 years, the peak age for optic pathway glioma. Other studies, however, failed to confirm the sensitivity of VEPs in detecting asymptomatic optic pathway gliomas [37]. …”

Section: Imaging Modalitiesmentioning

confidence: 96%

Optic pathway gliomas in children with neurofibromatosis 1: Consensus statement from the nf1 optic pathway glioma task force

Listernick

Louis

Packer

et al. 1997

Annals of Neurology

417

180

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Neurofibromatosis 1 (NF1) is a common autosomal dominant disorder in which affected individuals develop benign and malignant tumors [ ll. Because of the association between NF 1 and tumor development, the NFI gene has been classified as a tumor suppressor gene [2]. The NFI gene was identified in 1990 and found to code for a large cytoplasmic protein of 2,818 acids [3-51. The NFI gene product, neurofibromin, contains a small region in the central part of the protein that bears sequence similarity with a family of proteins that regulate the protooncogene p21-ras [6][7][8][9]. These p2 1 -ras regulatory proteins are collectively termed guanosine triphosphatase (GTPase)-activating proteins (GAPS). Since p21-ras can transform cells, neurofibromin (as an inhibitor of p21-ras activation) would therefore suppress the growth of cells. This association between NFl GAP function and p21-ras regulation has been demonstrated for some tumors in patients with NF1 [lo-121. One of the most common tumors in patients with NF1 is the optic pathway glioma. Although optic pathway tumors account for only 2 to 5% of all brain tumors in childhood, as many as 70% are associated with NF1. While these tumors generally behave in a benign fashion, optic pathway gliomas can lead to visual loss or extend to nearby brain regions and result in other signs and symptoms. In October 1995, a steering committee was designated by the National Neurofibromatosis Foundation and the Cold Spring Harbor Laboratory to address common clinical problems in NF1. Its goals were to create task forces composed of both basic science and clinical researchers who had worked extensively in various areas of research in NF1. These task forces were to review and critique the known information on these specific targeted areas, to provide rational guidelines for the care of NFl patients, and to establish the basis for future clinical trials. This consensus statement, the result of work performed by the Optic Glioma Task Force, outlines recommendations for the screening, follow-up, and treatment of optic pathway gliomas in children with NF 1. TerminologyOptic glioma has been used widely as a diagnostic term for low-grade astrocytic gliomas arising in the optic nerves. More recently, in recognition of the involvement of other regions of the optic system, the terms optic pathway glioma and visual pathway glioma have gained acceptance. Nonetheless, these terms are imprecise because the term glioma encompasses a wide variety of biologically and clinically distinct lesions. The vast majority of optic pathway gliomas, including the tumors that arise in NF1 patients, are pilocytic astrocytomas. Indeed, the World Health Organization (WHO) classification of central nervous system tumors and the major brain tumor reference texts do not recognize optic pathway glioma as a separate pathological entity, but include these lesions under the rubric of pilocytic astrocytoma [ 13-1 61. Although not well entrenched in the literature, the most accurate term for these tumors is pilocytic artrocy...

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Section: Imaging Modalitiesmentioning

confidence: 96%

Optic pathway gliomas in children with neurofibromatosis 1: Consensus statement from the nf1 optic pathway glioma task force

Listernick

Louis

Packer

et al. 1997

Annals of Neurology

417

180

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“…The diagnostic relevance of the VEP for optic glioma is controversial. Rossi et al [12]insisted that VEP cannot be considered as a screening test, because some children with optic glioma present with normal findings on VEP. In the present case, however, we determined from the VEP findings the patient’s degree of visual impairment, which was difficult to ascertain because of her age, and we could exclude craniopharyngioma, in which the VEP latency and amplitude tend to be preserved.…”

Section: Discussionmentioning

confidence: 99%

Optic Glioma with Characteristic Bilateral Optic Atrophy in a 3-Year-Old Girl

Nomura¹,

Suzuki

Sugiyama³

et al. 1999

Pediatr Neurosurg

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We report a case of optic glioma with bilateral optic atrophy. A 3-year-old girl presented with vomiting and left hemiparesis. She had hypothalamic dysfunction, right ptosis, right monocular nystagmus, left facial palsy, left hemiparesis, and left pes adductus. Neuroimaging studies showed obstructive hydrocephalus with a large suprasellar calcified tumor with a ring-like enhancement mimicking craniopharyngioma. Visual-evoked potentials showed delayed latency of N₇₅ in the right occipital lead. The tumor, a pilocytic astrocytoma in the right optic tract and chiasma, was partially removed via a right fronto-temporal craniotomy. The right optic nerve had shrunk to half the normal diameter and became twisted downwardly. Intracranial pressure (ICP) increased to 40 cm H₂O. The fundus had bilateral optic atrophy without disc swelling. To our knowledge, this is the first report of a lamina/dot sign of the optic disc in a small child with a brain tumor and a normal neuroretinal fiber layer. These ocular findings may result from possible interruption of the axonal flow caused by the tumor and not increased ICP.

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“…Spontaneous regression of optic glioma without treatment has also been reported [43]. Visual evoked potentials can detect early signs [44], but the sensitivity of this test has been challenged [45]. The utility of these approaches to early diagnosis is questionable given that treatment is reserved for instances of symptomatic progression.…”

Section: Optic Gliomamentioning

confidence: 99%

Pathophysiology of Neurofibromatosis Type 1

2006

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Neurofibromatosis type 1 (NF1) represents a major risk factor for development of malignancy, particularly malignant peripheral nerve sheath tumors (MPNST), optic gliomas, other gliomas, and leukemias. The oncologist will see NF1 patients referred for treatment of malignancy, and should be alert to the possibility of undiagnosed NF1 among patients with cancer. Brain tumors tend to have a more indolent course in NF1 than in the general population, and hence are best managed conservatively. MPNST, in contrast, do not respond to standard chemotherapy or radiation therapy. The most effective treatment of MPNST appears to be early diagnosis and surgery, but early diagnosis is hampered by frequent occurrence within preexisting large tumors, making new growth or change difficult to detect. New insights into pathogenesis now offer hope of development of specific methods of treatment with reduced toxicity and more precise molecular targeting. There is an urgent need, however, to develop methods to measure tumor growth and monitor outcomes, develop preclinical drug screening systems, and further explore the pathogenesis of the disorder to determine whether mechanisms other than Ras regulation may be important in pathogenesis.

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Early diagnosis of optic glioma in children with neurofibromatosis type 1

Cited by 30 publications

References 13 publications

Optic pathway gliomas in children with neurofibromatosis 1: Consensus statement from the nf1 optic pathway glioma task force

Optic pathway gliomas in children with neurofibromatosis 1: Consensus statement from the nf1 optic pathway glioma task force

Optic Glioma with Characteristic Bilateral Optic Atrophy in a 3-Year-Old Girl

Pathophysiology of Neurofibromatosis Type 1

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