James E. Gillespie

Second Primary Tumors in Neurofibromatosis 1 Patients Treated for Optic Glioma: Substantial Risks After Radiotherapy

PURPOSE Optic pathway gliomas (OPGs) are the most common CNS tumor in neurofibromatosis 1 (NF1) patients. We evaluated the long-term risk of second tumors in NF1-related OPGs after radiotherapy. PATIENTS AND METHODS We reviewed 80 NF1 OPG patients from two NF1 clinics to evaluate the long-term risk of developing subsequent nervous system tumors, with or without radiotherapy. RESULTS Fifty-eight patients were assessable for second tumors. Nine (50%) of 18 patients who received radiotherapy after their OPGs developed 12 second tumors in 308 person-years of follow-up after radiotherapy. Eight (20%) of 40 patients who were not treated with radiotherapy developed nine tumors in 721 person-years of follow-up after diagnosis of their OPGs. The relative risk of second nervous system tumor after radiotherapy was 3.04 (95% CI, 1.29 to 7.15). CONCLUSION There is a significantly increased risk of second nervous system tumors in those NF1 patients who received radiotherapy for their OPGs, especially when treated in childhood. Thus radiotherapy should only be used if absolutely essential in children with NF1.

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.

Neurofibromatosis 2 (NF2) is an autosomal dominant disease that is characterized by tumors on the vestibular branch of the VIII cranial nerve, but other types of nervous system tumors usually occur as well. Genotype-phenotype correlations are well documented for overall NF2 disease severity but have not been definitively evaluated for specific types of non-VIII nerve tumors. We evaluated genotype-phenotype correlations for various types of non-VIII nerve tumors in 406 patients from the population-based United Kingdom NF2 registry, using regression models with the additional covariates of current age and type of treatment center (specialty or nonspecialty). The models also permitted consideration of intrafamilial correlation. We found statistically significant genotype-phenotype correlations for intracranial meningiomas, spinal tumors, and peripheral nerve tumors. People with constitutional NF2 missense mutations, splice-site mutations, large deletions, or somatic mosaicism had significantly fewer tumors than did people with constitutional nonsense or frameshift NF2 mutations. In addition, there were significant intrafamilial correlations for intracranial meningiomas and spinal tumors, after adjustment for the type of constitutional NF2 mutation. The type of constitutional NF2 mutation is an important determinant of the number of NF2-associated intracranial meningiomas, spinal tumors, and peripheral nerve tumors.

Vestibular schwannoma: role of conservative management

OBJECTIVE To assess the outcome of conservative management of vestibular schwannoma. STUDY DESIGN Observational study. SETTING Tertiary referral centre. PATIENTS Four hundred and thirty-six patients with vestibular schwannoma (490 tumours), including 327 sporadic tumours and 163 tumours in 109 patients with neurofibromatosis type two. MAIN OUTCOME MEASURES The relationship of tumour growth to tumour size at presentation, and to certain demographic features. RESULTS The initial tumour size was significantly larger in the neurofibromatosis type two group (11 mm) than in the sporadic vestibular schwannoma group (5.1 mm). In both groups, 68 per cent of tumours did not grow during follow up (mean 3.6 years; range one to 14 years). The mean growth rate was 1.1 mm/year (range 0-15 mm/year) for sporadic tumours and 1.7 mm/year (range 0-18 mm/year) for neurofibromatosis type two tumours. The tumour growth rate correlated positively with tumour size in the sporadic tumour group, and correlated negatively with age in the neurofibromatosis type two group. CONCLUSION Two-thirds of vestibular schwannomas did not grow. Radiological surveillance is an acceptable approach in carefully selected patients. Once a sporadic vestibular schwannoma reaches 2 cm in intracranial diameter, it is likely to continue growing. We do not recommend conservative management for sporadic tumours with an intracranial diameter of 1.5 cm or more. Vestibular schwannoma management is more complex in patients with neurofibromatosis type two.

Facial palsy after glomus tumour embolization.

A case is presented of a patient undergoing pre-operative embolization of a glomus tumour who developed a facial palsy one hour after embolization. At the time of surgery it was found to be due to the embolization material (polyvinyl alcohol foam) blocking the stylomastoid artery. The blood supply of glomus tumours and the variations in the blood supply of the facial nerve are discussed.

The fate of tumour rests following removal of acoustic neuromas: An MRI Gd-DTPA study

The fate of capsular fragments left attached to vital structures at the time of otherwise total tumour removal was studied in 14 of 21 such patients who underwent acoustic neuroma surgery. Imaging using magnetic resonance Gd-DTPA at post-operative intervals of 6 months-12 years (mean 70 months) showed evidence of persistent tumour in half the patients. None of the patients had developed new symptoms and computed tomography had failed to demonstrate tumour recurrence. Persistence of the tumour was more likely if the residual fragments were not cauterized at the time of operation. Four of the seven persisting tumour rests showed evidence of gradual enlargement. The implications for patient management, particularly if an attempt is made to preserve hearing, are discussed.

Intracranial/Extracranial meningioma arising in the hypoglossal canal: case report.

A case of a patient with a posterior fossa meningioma extending through the hypoglossal canal to the cervical region as described in this article has not been previously described in the literature. Investigations and surgical management are outlined and pathological classifications are discussed. A literature review including recent reports of extracranial meningiomas is presented. Extracranial meningiomas are exceedingly rare and a high index of suspicion is necessary to make the diagnosis.

Metastatic carcinoma mimicking a facial nerve schwannoma: the role of computerized tomography in diagnosis.

Secondary deposits in the temporal bone are uncommon but well recognized. Such tumours may involve the facial nerve by direct extension of the destructive process into the fallopian canal. We present a rare case of metastasis from a breast carcinoma in the facial nerve itself, involving the nerve in the internal acoustic meatus with extension into the labyrinthine segment, the first genu and into the middle-ear segment. The rest of the temporal bone was not involved. The lesion resembled a facial schwannoma on a routine magnetic resonance (MR) image. The diagnosis was confirmed after a post-operative computed tomography (CT) scan showed another separate secondary deposit in the basisphenoid. Histology was consistent with secondary tumour from a breast carcinoma. The case highlights the importance of keeping a high degree of suspicion for metastatic tumours in patients with a previous history of malignancy and the usefulness of CT scan in the evaluation of such cases.

Case report: Diagnosis of metastatic leptomeningeal melanoma by contrast enhanced MRI

A case of leptomeningeal melanoma metastases with a confusing clinical picture is presented. Despite repeated cytological examinations of the cerebrospinal fluid proving negative, the diagnosis was eventually made by magnetic resonance imaging with gadolinium DTPA enhancement.

Stenosis of the internal auditory meatus masquerading as bilateral vestibular schwannomas: a cautionary tale.

Stenotic malformations of the internal auditory meatus (IAM) are rare. They are known to symptomatically mimic vestibular schwannomas leading to potential diagnostic error. We present a case (along with literature review) where a stenotic IAM was clinically and radiologically misdiagnosed as a vestibular schwannoma.