Causes of mortality in neurofibromatosis type 2.

OBJECT: The causes of mortality in neurofibromatosis type 2 (NF2) patients are poorly studied in the literature. Our study aimed to fit this gap by analyzing the main causes of death in this population. METHODS: This study is the retrospective review of prospectively collected data of 80 patients with NF2 disease followed in Lille University Hospital between 1987 and 2011. Demographical data, diagnosis criteria, and cause of death were recorded. RESULTS: There were 45 men and 35 women, with a mean age at diagnosis of 27.2 years (range: 6-73 years; SD: ± 15.4). Sixty-eight patients met Manchester criteria and the others had an identified mutation in the NF2 gene which confirmed the diagnosis. Of all patients, we noted 7 deaths. The mean age at diagnosis of dead patients was 26 years. The mean age of death was 38.9 years. The causes of death were suicide in 1 patient, hematoma after surgical removal of grade IV vestibular schwannoma in 1 patient, aspiration pneumonia after swallowing disturbances in 3 patients, intracranial hypertension related to growth of multiple meningiomas in 1 patient, and brachial plexus sarcoma grade 3 in the last patient. CONCLUSION: NF2 is a serious disease that can quickly be life-threatening. The presence of lower cranial nerves schwannomas is a poor prognostic factor, and radiosurgery should be considered for their treatment, as surgical removal often worsens the swallowing disturbances. A psychological support should also be provided.

Prognostic value and management of spinal tumors in neurofibromatosis type 2 patients.

PURPOSE: Neurofibromatosis type 2 (NF2) is a well-studied disease. Although spinal tumors are frequent, many issues concerning their prognosis and management still have to be clarified. The authors studied the clinical impact and radiological progression of spinal tumors in patients with NF2 to determine their prognostic value. METHODS: A total of 80 NF2 patients were followed in the Lille University Hospital between 1987 and 2011. Clinical, radiological and genetic data were retrospectively recorded and analyzed. Patients underwent annual cranial and spinal MRI. Both the location and size of each tumor were reported. The diagnosis of NF2 was confirmed either because the patient met the Manchester criteria or by the presence of genetic mutation. RESULTS: The mean follow-up period was 8.8 years (range 1 to 24 years; SD: ±0.8), and the mean age at diagnosis was 27.2 years (range 6 to 73 years; SD: ±1.7). Among all patients, 48 harbored spinal tumors. Twenty of them were symptomatic, and 21 were operated on. Patients with spinal tumors had a lower age at diagnosis (p = 0.02), a higher number of intracranial meningiomas (p = 0.028) and schwannomas (p = 0.03), and more nonsense and frameshift mutations (p = 0.04). CONCLUSION: Spinal tumors are common in NF2, and all patients should be regularly monitored by spinal MRI. The presence of spinal tumors seems to be a factor indicating poor prognosis. Clinical and radiological monitoring of spinal tumors could lead to early treatment both when clinical symptoms are present and in case of proven radiological evolution, maintaining a favorable functional prognosis as long as possible.

Intracranial meningiomas and neurofibromatosis type 2.

PURPOSE: In spite of the few clinical studies regarding the occurrence of intracranial meningiomas, their prognosis in neurofibromatosis type 2 (NF2) has not been accurately assessed and their management remains controversial. This study aims to compare NF2 patients with intracranial meningiomas to those without, and consequently to identify prognostic factors in attempt to improve the management of these tumors. METHODS: This retrospective study includes a total of 80 NF2 patients followed at Lille Hospital Center between 1987 and 2011. The diagnosis of NF2 was confirmed either because the patient met the Manchester criteria or by the presence of genetic mutation. Clinical, radiological and genetic data were retrospectively recorded and analyzed. Patients underwent annual cranial and spinal MRI. Both location and size of each tumor were reported. RESULTS: The mean follow-up period was 8.8 years (range 1-24 years; SD: ±0.8) and the mean age at diagnosis was 27.2 years (range 6-73 years; SD: ±1.7). Among all patients, 34 harbored intracranial meningiomas. Patients with intracranial meningiomas had a higher number of intracranial schwannomas, spinal tumors and cutaneous tumors (p < 0.05). They underwent more surgical procedures (p < 0.012). Twenty five intracranial meningiomas were surgically removed in 17 patients. The decision to perform surgery was taken in 10 cases for symptomatic tumors and in 15 cases for growing asymptomatic tumors determined by radiology. The histological analysis found a high rate of fibroblastic, transitional or grade 2 meningiomas preferentially located at the cerebri falx. CONCLUSION: Intracranial meningiomas are common in NF2. They are associated with poor prognosis factors. Clinical and radiological monitoring could lead to early treatment of these tumors both when clinical symptoms are present and in case of proven radiological evolution, and thus trying to maintain a favorable functional prognosis for as long as possible.

Retrosigmoid approach for meningiomas of the cerebellopontine angle: results of surgery and place of additional treatments.

BACKGROUND: Meningiomas of the cerebellopontine angle (CPA), although homogenous in terms of location, present different surgical challenges depending on their site of dural origin and extension. Complete tumor resection sometimes leads to high morbidity. The objective of this work is to evaluate the results of surgery and the place of additional treatments. METHODS: In a series of 115 patients with CPA meningiomas, we retrospectively studied 69 patients operated on between 1994 and 2007 using a retrosigmoid approach. Clinical presentation, operative findings and functional outcome were reviewed for a mean follow-up time of 36 months. RESULTS: Usual presentation was hearing loss associated with gait disturbance (50%) and vertigo (35%). Preoperative cochlear evaluation was abnormal in 40% of the cases. Most tumors (90%) originated on the posterior face of the petrous part of the temporal bone. In one-third of the cases, the meningioma had invaded the internal acoustic meatus. Total or subtotal tumor removal was achieved in 91% of patients without perioperative mortality. Fourteen patients received additional treatment with radiotherapy or radiosurgery for a small residual tumor, often deliberately left in place to reduce operative morbidity. At long-term follow-up, facial nerve function was preserved in 91% of the cases. Hearing worsened in 17% of patients. The tumor recurred in only one case. CONCLUSION: The retrosigmoid approach is a safe surgical procedure. The modern management of CPA meningiomas should achieve as complete a resection as possible within reasonable limits, considering that a small residual tumor can be controlled fairly easily with radiosurgery for a relatively long time.

Middle fossa approach for resection of vestibular schwannoma: impact of cochlear fossa extension and auditory monitoring on hearing preservation.

OBJECTIVE: To analyze the impact of patient selection and auditory monitoring on hearing results after middle fossa craniotomy approach for resection of a vestibular schwannoma (VS). STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Patients undergoing a middle fossa craniotomy for resection of VS at a single institution between 1995 and 2006 were included in the study population. Patients presenting with Neurofibromatosis Type 2 or who underwent a combined approach (middle fossa and retrosigmoid) were excluded. MAIN OUTCOME MEASURES: Hearing preservation as measured by serial audiograms. RESULTS: Seventy-seven patients were identified. Before excluding patients with cochlear fossa enhancement and the use of auditory monitoring, 47% of the patients maintained serviceable hearing (American Academy of Otolaryngology-Head and Neck Surgery Class A or B). By selecting tumors that did not involve the cochlear fossa and using auditory monitoring, serviceable postoperative hearing was preserved in 76% of the patients. CONCLUSION: Modification of our selection criteria for surgery and the use of auditory monitoring have improved our hearing results for patients undergoing a middle fossa approach for resection of VS from 47% to 76%.