Optic Nerve Tumors Research Articles

Disk swelling ‐ differential diagnosis in orbital space occupying lesions

AbstractWe frequently cannot decide with certainty whether a disk with blurred margins and slight elevation represents a pathologic condition or not. If unequivocal pathologic findings are lacking, it is up to the examiner to decide how far the diagnostic procedures should be carried out. It may be necessary to obtain neurologic consultation and to perform neuroradiologic investigations, including MRI and possibly angiographic techniques. On the other hand, after weighing the cost‐benefit ratio and the risk of some side effects, the investigator may rely on his clinical acumen and decide that the condition only represents a variant of the norm.Main differential diagnosis are pseudopapilledema in hyperopia, disk drusen, ocular hypotony, posterior scleritis, optic neuritis, disk edema (due to increased intracranial pressure, due to compression of the orbital part of the optic nerve), optic nerve tumours (meningioma, glioma), metastatic carcinoma, blurred disk margins without echographically demonstrable changes, congenital disk anomalies , central vein occlusion and anterior ischemic optic neuropathy.

Neuro‐ophthalmological analysis and imaging of optic nerve tumours

Abstract Purpose: To describe correlations between the clinical manifestations and the neuro‐radiological features of optic nerve tumors. Methods: Description of the available radiological techniques for the appropriate evaluation of an optic nerve tumor. MR imaging of the orbit is the most common method and it should include standard enhanced fat‐suppression, T1 and T2‐weighted axial and coronal images, other sequences being optional. Results: The two most primary common optic nerve tumors are optic nerve glioma and optic nerve meningioma, other tumors (gangliogliomas, medulloepitheliomas, haemangioblastomas haemangiopericytomas, etc.) being more rare, diagnosed on pathological, not radiological grounds.Optic nerve meningiomas, occurring most commonly in middle‐aged females, have a tubular appearance on CT or MR as opposed to the fusiform or globular shape of optic gliomas. Optic nerve sheath meningiomas are usually isointense or hypointense on T1‐weighted imaging, enhancing after contrast injection.Metastatic carcinomas to the optic nerve are very unusual, and may be sometimes radiographically indistinguishable from optic nerve meningioma. In most of the cases a thourough history and accurate clinical examination may help the interpretation of the radiological findings, pathology being however at times necessary in atypical cases. Conclusions: Neuro‐imaging allows most often to distinguish different types of optic nerve tumors. This is the reason why it is widely accepted now to use radiotherapy for treatment of optic nerve sheath meningiomas without pathological confirmation of the diagnosis. In individual cases with atypical clinical or radiological features, pathology is nevertheless needed for firm diagnosis.

New prospects for management and treatment of inoperable and recurrent skull base meningiomas

Skull base, including optic nerve, cavernous sinus, clival and foramen magnum tumors represent a major challenge for neurosurgeons and neuro-oncologists. Growth regulatory signaling pathways for these tumors are of increasing interest as potential targets for new chemotherapy. Those differentially activated in various grades of meningiomas are currently being identified as well. This article reviews some recent findings pathways that appear to regulate meningioma growth. Potential targets for novel therapies are also discussed.

Méningiome du nerf optique. L’expérience lyonnaise

Meningioma is an unfrequent optic nerve tumor. Clinical symptoms are not specific, and pathology exam not easily accessible. The diagnosis is usually based on imaging findings. We report our experience, based on twenty patients. Most of them were middle-aged women (mean age=47 years old). The optic nerve meningioma (ONM) was often revealed by visual dysfunction. Ophthalmological evaluation was altered in most patients (visual acuity, visual fields, fundi). The gold-standard exam was MRI of the optic nerve, with and without gadolinium, and with fat-sat sequences. Thirty percent of the lesions remain stable without treatment. Functional prognosis has been improved only by conformal fractionated radiotherapy, but indications and modalities remain to be specified.

Primary and secondary tumours of the optic nerve, with emphasis on invasion of uveal malignant melanoma

Tumours of the optic nerve may originate in the optic nerve itself (i.e. primary tumours) or in structures adjacent to the optic nerve (i.e. secondary tumours). Furthermore, leukaemic infiltration and tumour metastases from distant solid tumours are also found in the optic nerve (i.e. secondary tumours). Large surveys have described primary optic nerve tumours and their treatment modalities whereas secondary tumours have received little attention. Most reported work-ups have been based on material from referral centres and specialized departments. The correlation between invasion of the optic nerve in uveal melanoma and the risk of dying from the disease is not fully elucidated. The impact on prognosis may be correlated with tumour cells left in the proximal nerve after enucleation. In addition, melanomas with secondary invasion of the optic nerve may be a highly malignant invasive subcategory of uveal melanomas. Clinical factors that should make the ophthalmologist aware of optic nerve invasion when investigating a uveal melanoma would be most important. Melanomas with invasion of the optic nerve may histopathologically display different invasive patterns and represent different types of uveal melanoma. A subtype of uveal melanoma with preponderance for neural invasion may exist. Such a subtype has been identified for cutaneous melanoma (desmoplastic/neurotropic). In order to investigate tumours of the optic nerve in a known population, we studied all surgically removed tumours of the optic nerve in Denmark during a study period of 25 years. Furthermore, in order to elucidate questions of secondary invasion of the optic nerve in uveal melanoma, all eyes enucleated with a uveal melanoma and optic nerve invasion in Denmark between 1942 and 2001 (n = 157) were investigated. Tumours of the optic nerve in children were dominated by optic glioma and invasion from retinoblastoma, whereas tumours in adults mainly comprised optic nerve sheath meningioma and invasion from uveal melanoma. Optic nerve invasion of uveal melanoma was found in 1 in 20 patients. Increased intraocular pressure and juxtapapillary location were associated with both prelaminar/laminar and postlaminar invasion of the optic nerve. Furthermore, age older than 70 years, reduced vision to light perception, non-visible fundus and large tumour size were associated with postlaminar invasion. Only patients with optic nerve invasion had metastases to the CNS, kidney and heart. Histopathological features associated with optic nerve invasion were focal retinal invasion, neovascularization of the chamber angle and scleral invasion. Furthermore, non-spindle cell type and rupture of the inner limiting membrane were both associated with postlaminar invasion. The optic nerve was invaded in four different ways: 1) by tumour extension from the neuroretina through the lamina cribrosa 2) by direct extension into the optic nerve head between Bruch's membrane and the border tissue of Elschnig 3) by direct invasion through the border tissue of Elschnig and 4) by spreading along the inner limiting membrane to the optic nerve head and through the lamina cribrosa. Most melanomas with invasion of the optic nerve were large juxtapapillary tumours invading the nerve because of their close location to the nerve, but a subcategory of neurotropic uveal melanomas with a diffuse invasive growth pattern was also found. These tumours invade the optic nerve and retina regardless of tumour size and location. Invasion of the optic nerve had no impact on the prognosis per se, but was seen in association with a series of other prognostic factors (e.g. cell type, extrascleral extension). I wish to express my sincere gratitude to my invaluable mentors Associate Professor Steffen Heegaard MD and Professor Jan Ulrik Prause MD for introducing me to the fascinating world of ophthalmology. Their optimism and encouraging guidance in the fields of research and pathology has been a great inspiration. This study was made possible by grants from The Danish Cancer Society, Værn om Synet, Synoptikfonden, Købmand M. Kristian Kjær og hustru Margrethe Kjær født la Cour-Holmen's Fond, Overlærer Svend Hansen's Fond, Savværksejer Jeppe Juhl og Hustru Ovita Juhls Mlndelegat, Alcon and H:S Generelle Forskningspulje.

Primary and secondary tumours of the optic nerve, with emphasis on invasion by uveal malignant melanoma

AbstractTumours of the optic nerve may originate in the optic nerve itself (i.e. primary tumours) or in structures adjacent to the optic nerve (i.e. secondary tumours). Furthermore, leukaemic infiltration and tumour metastases from distant solid tumours are also found in the optic nerve (i.e. secondary tumours). Large surveys have described primary optic nerve tumours and their treatment modalities, whereas secondary tumours have received little attention. Most reported work‐ups have been based on material from referral centres and specialized departments.The correlation between invasion of the optic nerve in uveal melanoma and the risk of death from the disease has not been fully elucidated. The impact on prognosis may be correlated with tumour cells left in the proximal nerve after enucleation. In addition, melanoma with secondary invasion of the optic nerve may represent a highly malignant invasive subcategory of uveal melanoma. Clinical factors that make the ophthalmologist aware of optic nerve invasion when investigating a uveal melanoma are most important.Melanomas that invade the optic nerve may histopathologically display different invasive patterns and represent different types of uveal melanoma. A subtype of uveal melanoma with a preponderance for neural invasion may exist. Such a subtype has been identified for cutaneous melanoma (desmoplastic/neurotropic).In order to investigate tumours of the optic nerve in a known population, we studied all optic nerve tumours that had been surgically removed in Denmark over a period of 25 years. Furthermore, in order to resolve questions about secondary invasion of the optic nerve in uveal melanoma, we investigated all eyes with uveal melanoma and optic nerve invasion enucleated in Denmark between 1942 and 2001 (n = 157).Tumours of the optic nerve in children were dominated by optic glioma and invasion from retinoblastoma, whereas tumours in adults mainly comprised optic nerve sheath meningioma and invasion from uveal melanoma.Optic nerve invasion of uveal melanoma was found in one in 20 patients. Increased IOP and juxtapapillary location were associated with both pre‐laminar/laminar and post‐laminar invasion of the optic nerve. Furthermore, age over 70 years, vision reduced to light perception, non‐visible fundus and large tumour size were associated with post‐laminar invasion. Only patients with optic nerve invasion had metastases to the CNS, kidney and heart.Histopathological features associated with optic nerve invasion were focal retinal invasion, neovascularization of the chamber angle and scleral invasion. Furthermore, non‐spindle cell type and rupture of the ILM were all associated with post‐laminar invasion.The optic nerve was invaded in four different ways: by tumour extension from the neuroretina through the lamina cribrosa; by direct extension into the optic nerve head between Bruch's membrane and the border tissue of Elschnig; by direct invasion through the border tissue of Elschnig and, by spreading along the ILM to the optic nerve head and through the lamina cribrosa. Most melanomas with invasion of the optic nerve were large juxtapapillary tumours that invaded the nerve because of their close location to it, but a subcategory of neurotropic uveal melanomas with a diffuse invasive growth pattern was also found. These tumours invade the optic nerve and retina regardless of tumour size and location.Invasion of the optic nerve had no impact on prognosis per se, but was seen in association with a series of other prognostic factors (e.g. cell type, extrascleral extension).

Orbital Space-Occupying Lesions in Indian Children

To present a review of all patients younger than 16 years who presented to us with orbital space-occupying lesions. Retrospective case study. We analyzed the records of 119 children younger than 16 years of age who had presented to us with proptosis during the 10-year study period. Myogenic tumors were the most common lesion seen (24%), followed by metastatic and secondary orbital tumors (17%), vasculogenic lesions (15%), cystic lesions (10%), inflammatory lesions simulating tumors (7.5%), optic nerve and meningeal tumors (7.5%), peripheral nerve tumors (5%), lacrimal fossa lesions (4%), lymphoid tumors and leukemias (2.5%), primitive neuroectodermal tumors (3%), and others (2.5%). We analyzed the profile of orbital lesions that underwent surgical procedures and were proven histopathologically. We found 63 malignancies among the 119 cases, for a malignancy rate of 53%. Orbital rhabdomyosarcoma and retinoblastoma with orbital spread were the most common causes of proptosis among the children.

Hemangioblastoma of the Optic Nerve-Case Report-

A 64-year-old man presented with a rare sporadic hemangioblastoma arising in the left optic nerve manifesting as left visual disturbance gradually progressive over 5 years. Magnetic resonance imaging revealed a well-enhanced mass in the left optic nerve. Partial resection of the tumor was performed via the frontoorbital approach. The histological diagnosis was optic nerve hemangioblastoma. Hemangioblastoma must be considered in the differential diagnosis of optic nerve tumors even in the absence of other lesions associated with von Hippel-Lindau disease.

Histological and Immunohistochemical Study of 30 Cases of Canine Meningioma

This report describes the incidence, location and histopathological and immunohistochemical features of 30 canine meningiomas, of which 22 were intracranial, three were retrobulbar and five were located in the spinal canal. Nine types of meningioma were diagnosed: transitional (9), meningothelial (5), psammomatous (3), anaplastic (3), fibroblastic (2), angioblastic (2), papillary (2), microcystic (1) and meningiomas arising from the optic nerve (3). One of the optic nerve tumours had a granular cell component. All tumours were examined immunohistochemically with antibodies against vimentin, S100, neuron-specific enolase (NSE), cytokeratin (CK) and glial fibrillary acidic protein (GFAP). Vimentin was demonstrated in all tumours, and concentric whorls of cells showed more intense labelling than did bundles of fibroblastic cells. S100 labelling was detected in all tumours except a single angioblastic meningioma. The intensity of labelling for S100 was lower than that for vimentin, and bundles of fibroblastic cells showed particularly strong positivity. NSE labelling was highly variable, but most tumours displayed moderate positivity. CK expression was observed in five of the 30 meningiomas, and was stronger in areas of microcystic differentiation. Most of the tumours were GFAP-negative, but two fibroblastic meningiomas were strongly positive.

Angioma retiniano como síndrome mascarada de tumor del nervio óptico en la enfermedad de Von Hippel-Lindau

A 35-year-old man with a family history of von Hippel-Lindau disease was diagnosed to have two retinal hemangiomas in the right eye and another in the left eye. The hemangiomas were treated with cryotherapy and laser photocoagulation respectively. Despite apparent good resolution of the retinal lesions, progressive visual loss was observed. An MRI was then performed and showed bilateral tumoral lesions of the optic nerve compatible with a glioma, meningioma or hemangioblastoma. Currently the visual acuity in his right eye is hand movement, and is 0.6 in the left eye. The presence of the retinal hemangiomas delayed the diagnosis of an optic nerve tumor in this patient.

Oculomotor Nerve Schwannoma Mimicking Ophthalmoplegic Migraine

Ophthalmoplegic migraine (OM) is a rare variant of migraine characterized by recurrent attacks of severe headache followed by oculomotor nerve palsy. The recent revision of the International Headache Classification has reclassified OM from a subtype of migraine, defined as a functional headache, to the neuralgia category. We describe a case of an 11-year-old girl with pathologically confirmed oculomotor nerve schwannoma who had been suffering from symptoms mimicking OM. For five years, she has been under treatment for OM, an initial diagnosis which was corroborated by brain magnetic resonance imaging (MRI). Usually, most OM attacks occur during one period in a lifetime and remit completely. In contrast, however, her attacks became more frequent and were not controlled by medication. After surgery, the frequency of OM attacks was reduced. From this experience, we hypothesize that optic nerve tumor is one condition that can mimic OM, without apparent signs suggestive of intracranial mass. To our knowledge, this is the first report to describe a pathologically confirmed case of oculomotor nerve schwannoma mimicking OM.

Histopathological Features and P-glycoprotein Expression in Retinoblastoma

To investigate the expression of P-glycoprotein (P-gp) in retinoblastoma specimens enucleated as a primary treatment or after conservative treatment and to correlate this expression with histopathological tumor features. Retrospective analysis was performed on retinoblastoma specimens obtained consecutively between 1993 and 2003 by enucleation either as primary treatment (group I) or after the failure of conservative treatment (group II). Sections from the formalin-fixed, paraffin-embedded specimens were stained with hematoxylin and eosin. Group I tumor differentiation was classified according to the percentage of Flexner-Wintersteiner rosettes. Group II tumors, categorized as viable-appearing, regressed with a well-differentiated component (WDC), and regressed. Other features, such as choroidal and optic nerve invasion, were evaluated. P-gp expression was graded semiquantitatively as negative, low, or high. Variables were statistically analyzed by chi(2) and Student's t-tests. Histopathological assessment of group I revealed 65% moderately differentiated tumors, 30% well differentiated, and 5% poorly differentiated. Fifteen percent had optic nerve tumor invasion only, 20% choroidal invasion only, and 55% both choroidal and optic nerve invasion. Group II had 62.5% well-differentiated, regressed tumors; 25% had regressed tumors replaced by glial scarring; and 12.5% had tumors containing viable, poorly differentiated cells. Approximately 18% had choroidal tumor invasion only, 6.3% optic nerve tumor invasion only, and 6.3% simultaneous optic nerve and choroidal invasion. P-gp expression was observed in 60% of group I and 66.6% of group II. All P-gp-positive cases in group II had a high expression. P-gp was also expressed by 81.2% of well-differentiated tumors. P-gp was expressed more frequently by well-differentiated retinoblastomas, especially those treated by chemotherapy before enucleation. This finding could be related to treatment failure.

Visual changes after gamma knife surgery for optic nerve tumors

✓ Tumors involving the optic nerve (optic glioma, optic nerve sheath meningioma) are benign but difficult to treat. Gamma knife surgery (GKS) may be a useful treatment. The authors present data obtained in three such cases and record the effects of GKS.

Visual changes after gamma knife surgery for optic nerve tumors

Tumors involving the optic nerve (optic glioma, optic nerve sheath meningioma) are benign but difficult to treat. Gamma knife surgery (GKS) may be a useful treatment. The authors present data obtained in three such cases and record the effects of GKS.

Optic nerve glioma and colonic polyposis: report of a new association

The authors describe the clinical, radiological and histopathological features of an optic nerve glioma associated with colonic polyposis. The association between colonic polyposis and neuroepithelial tumours of the central nervous system has been previously described, but no association with optic nerve gliomas has ever been reported. We report a 14-y-old girl with colonic polyposis and unilateral proptosis for whom an excisional biopsy of the orbital lesion was performed. Histopathological evidence of juvenile pilocytic astrocytoma grade 1 was detected. Correlation with criteria for Turcot's syndrome was established. Optic nerve tumours should be included in the spectrum of central nervous system lesions associated with colonic polyposis.

Diagnosis and treatment of orbital optic nerve sheath meningioma.

Primary and secondary optic nerve sheath meningiomas (ONSMs) are neoplasms that account for a large proportion of optic nerve and orbital tumors. The diagnosis is not always straightforward and is based on the appropriate clinical findings and neuroimaging. Biopsy or surgical intervention may occasionally be necessary but is associated with significant morbidity. Issues related to clinical signs and symptoms, diagnosis, natural history, and treatment strategies are reviewed based on a review of published literature. Diagnosis is usually based on radiographic and clinical findings. Biopsies are not obtained in most cases, thus adding further to the bias of possible misdiagnosis in all reported case series that do not have the benefit of histopathologic confirmation. Natural history typically shows inexorable progression in most cases, although long periods of stability are occasionally reported. Treatment options include observation, radiation alone, surgery alone, and combined radiation and surgery. The optimum timing of interventional therapy and radiation are evolving. After serial examination documents new decline in acuity and/or visual field, fractionated radiotherapy appears most likely to preserve visual function and is a valid treatment approach for primary orbital ONSM. Tumor enlargement, as determined by serial imaging, may also provide an indication to begin radiotherapy.

CT and MRI investigation of the tumors of optic nerve

目的 探讨视神经肿瘤的CT、MRI表现.方法对病理学或临床证实的30例视神经肿瘤患者行CT、MR检查.结果脑膜瘤17例,表现为视神经增粗3例,梭形肿块11例,不规则眶内肿块3例;CT为软组织密度;MR T1WI呈中等或低信号,T2WI呈中等或高信号;肿瘤钙化5例,肿瘤内轨道征10例,均有明显强化,累及管内段及颅内段3例,同时发现肿瘤有流空血管影5例.视神经胶质瘤8例,3例表现为视神经弥漫性增粗,5例表现为梭形肿块;CT为软组织密度;MR T1WI呈低信号,T2WI呈高信号,均明显强化;累及管内段、视交叉6例,2例伴发神经纤维瘤病.视神经转移瘤5例,4例为视网膜母细胞瘤侵及视神经,1例肺癌转移至视神经.结论 CT、MR检查不仅可以推测视神经肿瘤的性质,还可以明确肿瘤侵及范围,对临床诊断和治疗具有指导作用。

New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria

Regional skin hypoplasia has been described in several genetic syndromes, including focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), oculocerebrocutaneous syndrome (OCCS), and terminal osseous dysplasia and pigmentary defects (TODP). All but OCCS have been reported to follow an X-linked inheritance pattern. We describe a 14-year-old girl with clinical features overlapping with these disorders. She had mild mental retardation, macrocephaly, microphthalmia, right-sided morning glory optic disc anomaly, palmar and lip pits, and polysyndactyly. A swirling pattern of skin hypopigmentation, papular hypopigmented and herniated skin lesions reminiscent of FDH most prominent over her face, head, hands, and feet was evident. Brain magnetic resonance imaging (MRI) showed polymicrogyria (most severely in the perisylvian and mesial frontal regions), enlarged left lateral ventricle, partial agenesis of the corpus callosum, and optic nerve tumor on the right. Dermatopathologic examination of the skin lesions was consistent with basaloid follicular hamartomas. The skin and digit anomalies observed overlap with FDH, but polymicrogyria, basaloid follicular hamartomas, optic nerve tumor, and morning glory anomaly have not previously been described in FDH. Skin defects in MLS are linear and the eyes typically have sclerocornea. Polymicrogyria has been described in OCCS, but not in any of the other three syndromes. The limb anomalies in TODP are reductions rather than polysyndactyly. Skin defects are localized to the face, and digital fibromas usually occur. While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome.

Update on treatment modalities for optic nerve sheath meningiomas

Optic nerve sheath meningiomas (ONSMs) represent 1 to 2% of all meningiomas and one third of all optic nerve tumors. The management of ONSMs is controversial. Traditional surgical removal often results in postoperative blindness in the affected eye and thus has been abandoned as a treatment option in most patients. Surgery may be unnecessarily aggressive, especially if the patient has useful vision. When these tumors are left untreated, however, ensuing progressive visual impairment may lead to complete blindness. More recently, radiotherapy has gained wider acceptance as a treatment for these lesions. The authors of some reports have suggested that fractionated stereotactic radiosurgery (SRS) may be the best option for treating primary ONSMs. In patients with documented progressive visual deterioration, fractionated SRS may be effective in improving or stabilizing remaining functional vision. The authors review the clinical presentation, radiographic characteristics, and management of ONSMs, emphasizing the use of fractionated SRS.

Natural history and clinical management of optic pathway glioma

Twenty-five consecutive unselected patients with optic pathway glioma (OPG) were primarily observed and treated if progression was evident. Diagnosis was based on MRI. The natural history of the OPG disease was more indolent in 12 patients with neurofibromatosis 1 (NF1) than in the others, and regressions were commonly observed. Thirteen non-NF1 patients had larger tumours at diagnosis and more progressions. There were five intra-orbital optic nerve tumours (one with progression), 19 chiasmatic tumours (12 with progression) and one diffuse tumour. OPG emerges before the age of 7 years in NF1 patients, and in non-NF1 patients also in older patients including adults. Progressive intra-orbital OPGs are best treated by surgical resection. Progressive chiasmatic tumours are best treated by radiotherapy and respond well by marked regression. Exceptionally, exophytic chiasmatic tumours may be treated by chiasm preserving surgery.