Optic Pathway Gliomas

Abstract

Childhood optic pathway gliomas (OPGs) are low-grade neoplasms intrinsic to the precortical visual pathway. These tumors occur preferentially during the first decade of life, especially in children with neurofibromatosis type 1. This review describes our current understanding of OPG pathology and discusses advances in their clinical evaluation, imaging, and management.

Keywords

optic pathway glioma - pilocytic astrocytoma - vision loss - optic atrophy - pediatric

• References

• 1 Linabery AM, Ross JA. Trends in childhood cancer incidence in the U.S. (1992–2004). Cancer 2008; 112 (2) 416-432
• 2 Dolecek TA, Propp JM, Stroup NE, Kruchko C. CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2005–2009. Neuro-oncol 2012; 14 (Suppl. 05) v1-v49
• 3 Revere KE, Katowitz WR, Katowitz JA, Rorke-Adams L, Fisher MJ, Liu GT. Childhood optic nerve glioma: vision loss due to biopsy. Ophthal Plast Reconstr Surg 2016;
• 4 Czyzyk E, Jóźwiak S, Roszkowski M, Schwartz RA. Optic pathway gliomas in children with and without neurofibromatosis 1. J Child Neurol 2003; 18 (7) 471-478
• 5 Lynch TM, Gutmann DH. Neurofibromatosis 1. Neurol Clin 2002; 20 (3) 841-865
• 6 Listernick R, Charrow J, Greenwald M, Mets M. Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr 1994; 125 (1) 63-66
• 7 Blazo MA, Lewis RA, Chintagumpala MM, Frazier M, McCluggage C, Plon SE. Outcomes of systematic screening for optic pathway tumors in children with neurofibromatosis type 1. Am J Med Genet A 2004; 127A (3) 224-229
• 8 Prada CE, Hufnagel RB, Hummel TR , et al. The use of magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis type 1. J Pediatr 2015; 167 (4) 851-856.e1
• 9 Blanchard G, Lafforgue MP, Lion-François L , et al; NF France network. Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort. Eur J Paediatr Neurol 2016; 20 (2) 275-281
• 10 Kornreich L, Blaser S, Schwarz M , et al. Optic pathway glioma: correlation of imaging findings with the presence of neurofibromatosis. Am J Neuroradiol 2001; 22 (10) 1963-1969
• 11 Nicolin G, Parkin P, Mabbott D , et al. Natural history and outcome of optic pathway gliomas in children. Pediatr Blood Cancer 2009; 53 (7) 1231-1237
• 12 Dutton JJ. Gliomas of the anterior visual pathway. Surv Ophthalmol 1994; 38 (5) 427-452
• 13 Doganis D, Pourtsidis A, Tsakiris K , et al. Optic pathway glioma in children: 10 years of experience in a single institution. Pediatr Hematol Oncol 2016; 33 (2) 102-108
• 14 Dossetor FM, Landau K, Hoyt WF. Optic disk glioma in neurofibromatosis type 2. Am J Ophthalmol 1989; 108 (5) 602-603
• 15 Listernick R, Ferner RE, Liu GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol 2007; 61 (3) 189-198
• 16 Thiagalingam S, Flaherty M, Billson F, North K. Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients. Ophthalmology 2004; 111 (3) 568-577
• 17 Listernick R, Ferner RE, Piersall L, Sharif S, Gutmann DH, Charrow J. Late-onset optic pathway tumors in children with neurofibromatosis 1. Neurology 2004; 63 (10) 1944-1946
• 18 Singhal S, Birch JM, Kerr B, Lashford L, Evans DG. Neurofibromatosis type 1 and sporadic optic gliomas. Arch Dis Child 2002; 87 (1) 65-70
• 19 Ellis JA, Waziri A, Balmaceda C, Canoll P, Bruce JN, Sisti MB. Rapid recurrence and malignant transformation of pilocytic astrocytoma in adult patients. J Neurooncol 2009; 95 (3) 377-382
• 20 Pasol J, Sternau L, Luetmer P, Giannini C. Rapid progressive unilateral visual loss in an elderly man. J Neuroophthalmol 2010; 30 (2) 188-192
• 21 Shofty B, Constantini S, Bokstein F , et al. Optic pathway gliomas in adults. Neurosurgery 2014; 74 (3) 273-279 , discussion 279–280
• 22 Koenig SB, Naidich TP, Zaparackas Z. Optic glioma masquerading as spasmus nutans. J Pediatr Ophthalmol Strabismus 1982; 19 (1) 20-24
• 23 Lavery MA, O'Neill JF, Chu FC, Martyn LJ. Acquired nystagmus in early childhood: a presenting sign of intracranial tumor. Ophthalmology 1984; 91 (5) 425-453
• 24 Arnoldi KA, Tychsen L. Prevalence of intracranial lesions in children initially diagnosed with disconjugate nystagmus (spasmus nutans). J Pediatr Ophthalmol Strabismus 1995; 32 (5) 296-301
• 25 Janss AJ, Grundy R, Cnaan A , et al. Optic pathway and hypothalamic/chiasmatic gliomas in children younger than age 5 years with a 6-year follow-up. Cancer 1995; 75 (4) 1051-1059
• 26 Friedman JM, Birch P. An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1. Neuropediatrics 1997; 28 (2) 131-132
• 27 Chateil JF, Soussotte C, Pédespan JM, Brun M, Le Manh C, Diard F. MRI and clinical differences between optic pathway tumours in children with and without neurofibromatosis. Br J Radiol 2001; 74 (877) 24-31
• 28 Wan MJ, Ullrich NJ, Manley PE, Kieran MW, Goumnerova LC, Heidary G. Long-term visual outcomes of optic pathway gliomas in pediatric patients without neurofibromatosis type 1. J Neurooncol 2016; 129 (1) 173-178
• 29 Listernick R, Darling C, Greenwald M, Strauss L, Charrow J. Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history. J Pediatr 1995; 127 (5) 718-722
• 30 Habiby R, Silverman B, Listernick R, Charrow J. Precocious puberty in children with neurofibromatosis type 1. J Pediatr 1995; 126 (3) 364-367
• 31 Fisher MJ, Avery RA, Allen JC , et al; REiNS International Collaboration. Functional outcome measures for NF1-associated optic pathway glioma clinical trials. Neurology 2013; 81 (21) (Suppl. 01) S15-S24
• 32 Fisher MJ, Loguidice M, Gutmann DH , et al. Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro-oncol 2012; 14 (6) 790-797
• 33 Avery RA, Bouffet E, Packer RJ, Reginald A. Feasibility and comparison of visual acuity testing methods in children with neurofibromatosis type 1 and/or optic pathway gliomas. Invest Ophthalmol Vis Sci 2013; 54 (2) 1034-1038
• 34 Avery RA, Ferner RE, Listernick R, Fisher MJ, Gutmann DH, Liu GT. Visual acuity in children with low grade gliomas of the visual pathway: implications for patient care and clinical research. J Neurooncol 2012; 110 (1) 1-7
• 35 Patel DE, Cumberland PM, Walters BC, Russell-Eggitt I, Cortina-Borja M, Rahi JS ; OPTIC Study Group. Study of Optimal Perimetric Testing In Children (OPTIC): normative visual field values in children. Ophthalmology 2015; 122 (8) 1711-1717
• 36 Tow SL, Chandela S, Miller NR, Avellino AM. Long-term outcome in children with gliomas of the anterior visual pathway. Pediatr Neurol 2003; 28 (4) 262-270
• 37 Chang BCM, Mirabella G, Yagev R , et al. Screening and diagnosis of optic pathway gliomas in children with neurofibromatosis type 1 by using sweep visual evoked potentials. Invest Ophthalmol Vis Sci 2007; 48 (6) 2895-2902
• 38 Wolsey DH, Larson SA, Creel D, Hoffman R. Can screening for optic nerve gliomas in patients with neurofibromatosis type I be performed with visual-evoked potential testing?. J AAPOS 2006; 10 (4) 307-311
• 39 Avery RA, Rajjoub RD, Trimboli-Heidler C, Waldman AT. Applications of optical coherence tomography in pediatric clinical neuroscience. Neuropediatrics 2015; 46 (2) 88-97
• 40 Avery RA, Liu GT, Fisher MJ , et al. Retinal nerve fiber layer thickness in children with optic pathway gliomas. Am J Ophthalmol 2011; 151 (3) 542-549.e2
• 41 Avery RA, Cnaan A, Schuman JS , et al. Longitudinal change of circumpapillary retinal nerve fiber layer thickness in children with optic pathway gliomas. Am J Ophthalmol 2015; 160 (5) 944-952.e1
• 42 Gu S, Glaug N, Cnaan A, Packer RJ, Avery RA. Ganglion cell layer-inner plexiform layer thickness and vision loss in young children with optic pathway gliomas. Invest Ophthalmol Vis Sci 2014; 55 (3) 1402-1408
• 43 Brodsky MC. The “pseudo-CSF” signal of orbital optic glioma on magnetic resonance imaging: a signature of neurofibromatosis. Surv Ophthalmol 1993; 38 (2) 213-218
• 44 Yeom KW, Lober RM, Andre JB , et al. Prognostic role for diffusion-weighted imaging of pediatric optic pathway glioma. J Neurooncol 2013; 113 (3) 479-483
• 45 Jost SC, Ackerman JW, Garbow JR, Manwaring LP, Gutmann DH, McKinstry RC. Diffusion-weighted and dynamic contrast-enhanced imaging as markers of clinical behavior in children with optic pathway glioma. Pediatr Radiol 2008; 38 (12) 1293-1299
• 46 Yamamoto A, Miki Y, Urayama S , et al. Diffusion tensor fiber tractography of the optic radiation: analysis with 6-, 12-, 40-, and 81-directional motion-probing gradients, a preliminary study. Am J Neuroradiol 2007; 28 (1) 92-96
• 47 Lober RM, Guzman R, Cheshier SH, Fredrick DR, Edwards MS, Yeom KW. Application of diffusion tensor tractography in pediatric optic pathway glioma. J Neurosurg Pediatr 2012; 10 (4) 273-280
• 48 Filippi CG, Bos A, Nickerson JP, Salmela MB, Koski CJ, Cauley KA. Magnetic resonance diffusion tensor imaging (MRDTI) of the optic nerve and optic radiations at 3T in children with neurofibromatosis type I (NF-1). Pediatr Radiol 2012; 42 (2) 168-174
• 49 Chen YH, Gutmann DH. The molecular and cell biology of pediatric low-grade gliomas. Oncogene 2014; 33 (16) 2019-2026
• 50 Rodriguez FJ, Perry A, Gutmann DH , et al. Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients. J Neuropathol Exp Neurol 2008; 67 (3) 240-249
• 51 Hoffman HJ, Soloniuk DS, Humphreys RP , et al. Management and outcome of low-grade astrocytomas of the midline in children: a retrospective review. Neurosurgery 1993; 33 (6) 964-971
• 52 Sutton LN, Molloy PT, Sernyak H , et al. Long-term outcome of hypothalamic/chiasmatic astrocytomas in children treated with conservative surgery. J Neurosurg 1995; 83 (4) 583-589
• 53 Hoyt WF, Baghdassarian SA. Optic glioma of childhood. Natural history and rationale for conservative management. Br J Ophthalmol 1969; 53 (12) 793-798
• 54 Miller NR. Optic pathway gliomas are tumors!. Ophthal Plast Reconstr Surg 2008; 24 (6) 433
• 55 Cummings TJ, Provenzale JM, Hunter SB , et al. Gliomas of the optic nerve: histological, immunohistochemical (MIB-1 and p53), and MRI analysis. Acta Neuropathol 2000; 99 (5) 563-570
• 56 Burnstine MA, Levin LA, Louis DN , et al. Nucleolar organizer regions in optic gliomas. Brain 1993; 116 (Pt 6): 1465-1476
• 57 Parsa CF. Why optic gliomas should be called hamartomas. Ophthal Plast Reconstr Surg 2010; 26 (6) 497
• 58 Davies H, Bignell GR, Cox C , et al. Mutations of the BRAF gene in human cancer. Nature 2002; 417 (6892): 949-954
• 59 Avery RA, Fisher MJ, Liu GT. Optic pathway gliomas. J Neuroophthalmol 2011; 31 (3) 269-278
• 60 Gutmann DH. Using neurofibromatosis-1 to better understand and treat pediatric low-grade glioma. J Child Neurol 2008; 23 (10) 1186-1194
• 61 Hegedus B, Banerjee D, Yeh TH , et al. Preclinical cancer therapy in a mouse model of neurofibromatosis-1 optic glioma. Cancer Res 2008; 68 (5) 1520-1528
• 62 Pfister S, Janzarik WG, Remke M , et al. BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. J Clin Invest 2008; 118 (5) 1739-1749
• 63 Bar EE, Lin A, Tihan T, Burger PC, Eberhart CG. Frequent gains at chromosome 7q34 involving BRAF in pilocytic astrocytoma. J Neuropathol Exp Neurol 2008; 67 (9) 878-887
• 64 Yu J, Deshmukh H, Gutmann RJ , et al. Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma. Neurology 2009; 73 (19) 1526-1531
• 65 Warren KE, Poussaint TY, Vezina G , et al. Challenges with defining response to antitumor agents in pediatric neuro-oncology: a report from the response assessment in pediatric neuro-oncology (RAPNO) working group. Pediatr Blood Cancer 2013; 60 (9) 1397-1401
• 66 Campagna M, Opocher E, Viscardi E , et al. Optic pathway glioma: long-term visual outcome in children without neurofibromatosis type-1. Pediatr Blood Cancer 2010; 55 (6) 1083-1088
• 67 Parsa CF, Hoyt CS, Lesser RL , et al. Spontaneous regression of optic gliomas: thirteen cases documented by serial neuroimaging. Arch Ophthalmol 2001; 119 (4) 516-529
• 68 Perilongo G, Moras P, Carollo C , et al. Spontaneous partial regression of low-grade glioma in children with neurofibromatosis-1: a real possibility. J Child Neurol 1999; 14 (6) 352-356
• 69 Piccirilli M, Lenzi J, Delfinis C, Trasimeni G, Salvati M, Raco A. Spontaneous regression of optic pathways gliomas in three patients with neurofibromatosis type I and critical review of the literature. Childs Nerv Syst 2006; 22 (10) 1332-1337
• 70 Zuccoli G, Ferrozzi F, Sigorini M, Virdis R, Bassi P, Bellomi M. Early spontaneous regression of a hypothalamic/chiasmatic mass in neurofibromatosis type 1: MR findings. Eur Radiol 2000; 10 (7) 1076-1078
• 71 Walrath JD, Engelbert M, Kazim M. Magnetic resonance imaging evidence of optic nerve glioma progression into and beyond the optic chiasm. Ophthal Plast Reconstr Surg 2008; 24 (6) 473-475
• 72 Spicer GJ, Kazim M, Glass LR , et al. Accuracy of MRI in defining tumor-free margin in optic nerve glioma surgery. Ophthal Plast Reconstr Surg 2013; 29 (4) 277-280
• 73 Bruggers CS, Friedman HS, Phillips PC , et al. Leptomeningeal dissemination of optic pathway gliomas in three children. Am J Ophthalmol 1991; 111 (6) 719-723
• 74 Perilongo G, Carollo C, Salviati L , et al. Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region. Cancer 1997; 80 (1) 142-146
• 75 Taylor T, Jaspan T, Milano G , et al; PLAN Study Group. Radiological classification of optic pathway gliomas: experience of a modified functional classification system. Br J Radiol 2008; 81 (970) 761-766
• 76 Dodgshun AJ, Elder JE, Hansford JR, Sullivan MJ. Long-term visual outcome after chemotherapy for optic pathway glioma in children: site and age are strongly predictive. Cancer 2015; 121 (23) 4190-4196
• 77 Shofty B, Ben-Sira L, Freedman S , et al. Visual outcome following chemotherapy for progressive optic pathway gliomas. Pediatr Blood Cancer 2011; 57 (3) 481-485
• 78 Balcer LJ, Liu GT, Heller G , et al. Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging. Am J Ophthalmol 2001; 131 (4) 442-445
• 79 Laithier V, Grill J, Le Deley MC , et al; French Society of Pediatric Oncology. Progression-free survival in children with optic pathway tumors: dependence on age and the quality of the response to chemotherapy—results of the first French prospective study for the French Society of Pediatric Oncology. J Clin Oncol 2003; 21 (24) 4572-4578
• 80 Ahn Y, Cho BK, Kim SK , et al. Optic pathway glioma: outcome and prognostic factors in a surgical series. Childs Nerv Syst 2006; 22 (9) 1136-1142
• 81 Nishio S, Takeshita I, Fujiwara S, Fukui M. Optico-hypothalamic glioma: an analysis of 16 cases. Childs Nerv Syst 1993; 9 (6) 334-338
• 82 Diggs-Andrews KA, Brown JA, Gianino SM, Rubin JB, Wozniak DF, Gutmann DH. Sex Is a major determinant of neuronal dysfunction in neurofibromatosis type 1. Ann Neurol 2014; 75 (2) 309-316
• 83 Astrup J. Natural history and clinical management of optic pathway glioma. Br J Neurosurg 2003; 17 (4) 327-335
• 84 Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007; 6 (4) 340-351
• 85 Packer RJ, Ater J, Allen J , et al. Carboplatin and vincristine chemotherapy for children with newly diagnosed progressive low-grade gliomas. J Neurosurg 1997; 86 (5) 747-754
• 86 Ater JL, Zhou T, Holmes E , et al. Randomized study of two chemotherapy regimens for treatment of low-grade glioma in young children: a report from the Children's Oncology Group. J Clin Oncol 2012; 30 (21) 2641-2647
• 87 Cardellicchio S, Bacci G, Farina S , et al. Low-dose cisplatin-etoposide regimen for patients with optic pathway glioma: a report of four cases and literature review. Neuropediatrics 2014; 45 (1) 42-49
• 88 Cappellano AM, Petrilli AS, da Silva NS , et al. Single agent vinorelbine in pediatric patients with progressive optic pathway glioma. J Neurooncol 2015; 121 (2) 405-412
• 89 Gururangan S, Fisher MJ, Allen JC , et al. Temozolomide in children with progressive low-grade glioma. Neuro-oncol 2007; 9 (2) 161-168
• 90 Bouffet E, Jakacki R, Goldman S , et al. Phase II study of weekly vinblastine in recurrent or refractory pediatric low-grade glioma. J Clin Oncol 2012; 30 (12) 1358-1363
• 91 Avery RA, Hwang EI, Jakacki RI, Packer RJ. Marked recovery of vision in children with optic pathway gliomas treated with bevacizumab. JAMA Ophthalmol 2014; 132 (1) 111-114
• 92 Horwich A, Bloom HJG. Optic gliomas: radiation therapy and prognosis. Int J Radiat Oncol Biol Phys 1985; 11 (6) 1067-1079
• 93 Bataini JP, Delanian S, Ponvert D. Chiasmal gliomas: results of irradiation management in 57 patients and review of literature. Int J Radiat Oncol Biol Phys 1991; 21 (3) 615-623
• 94 Jenkin D, Angyalfi S, Becker L , et al. Optic glioma in children: surveillance, resection, or irradiation?. Int J Radiat Oncol Biol Phys 1993; 25 (2) 215-225
• 95 Cappelli C, Grill J, Raquin M , et al. Long-term follow up of 69 patients treated for optic pathway tumours before the chemotherapy era. Arch Dis Child 1998; 79 (4) 334-338
• 96 Grabenbauer GG, Schuchardt U, Buchfelder M , et al. Radiation therapy of optico-hypothalamic gliomas (OHG)—radiographic response, vision and late toxicity. Radiother Oncol 2000; 54 (3) 239-245
• 97 Pierce SM, Barnes PD, Loeffler JS, McGinn C, Tarbell NJ. Definitive radiation therapy in the management of symptomatic patients with optic glioma. Survival and long-term effects. Cancer 1990; 65 (1) 45-52
• 98 Grill J, Couanet D, Cappelli C , et al. Radiation-induced cerebral vasculopathy in children with neurofibromatosis and optic pathway glioma. Ann Neurol 1999; 45 (3) 393-396
• 99 Kestle JR, Hoffman HJ, Mock AR. Moyamoya phenomenon after radiation for optic glioma. J Neurosurg 1993; 79 (1) 32-35
• 100 Lacaze E, Kieffer V, Streri A , et al. Neuropsychological outcome in children with optic pathway tumours when first-line treatment is chemotherapy. Br J Cancer 2003; 89 (11) 2038-2044
• 101 Sharif S, Ferner R, Birch JM , et al. Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. J Clin Oncol 2006; 24 (16) 2570-2575