We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2). Methods: Two large databases of individuals fulfilling NF2 criteria (n=1361) and those tested for NF2 variants with criteria short of diagnosis (n=1416) were interrogated. We assessed the proportions meeting each diagnostic criterion with constitutional or mosaic NF2 variants and the specificity with regard to refuted diagnosis. Results: There was no evidence for usefulness of old criteria 'glioma' or 'neurofibroma'. 'Ependymoma' had 100% specificity and high levels of confirmed NF2 diagnosis (67.7%). Those with bilateral vestibular schwannoma (VS) alone aged ≥60 years had the lowest confirmation rate (6.6%) and reduced specificity (80%). Siblings as a firstdegree-relative, without an affected parent, had 0% specificity. All three individuals with a unilateral VS and an affected sibling were proven not to have NF2. The biggest overlap was with LZTR1-associated schwannomatosis. In this category, seven individuals with a unilateral VS plus ≥2 non-dermal schwannomas reduced specificity to 67%. Conclusion: The present study has confirmed important deficiencies in NF2 diagnostic criteria. The term 'glioma' should be dropped and replaced by 'ependymoma'. Similarly 'neurofibroma' should be removed. Dropping 'sibling' from first-degreerelatives should be considered and testing of LZTR1 should be recommended for unilateral VS.
Objective: To assess the complication rate of magnetic resonance imaging (MRI) using 1.5 T scanners on cochlear implant (CI) and auditory brainstem implant (ABI) recipients over 14.5 years. Methods: Prospective study conducted in a tertiary referral center for cochlear and auditory brainstem implantation, including patients with neurofibromatosis 2. The primary outcome was complications related to MRI scanning in implant recipients, including failure to complete MRI sessions. The secondary outcome was magnet void size due to MRI scanning with magnet in situ. Results: Ninety-seven patients (21 ABI recipients, 76 CI recipients of whom 23 were bilateral) underwent a total of 428 MRI sessions consisting of 680 MRI procedures, which generated 2,601 MRI sequences (excluding localizers). Of these, 28/428 (6.5%) MRI sessions were performed with magnet removed, and the remaining 400/428 (93.4%) with the magnet in situ. The overall complication rate per session was 15/428 (3.5%). The majority of complications were accounted for by patient discomfort, in some cases requiring abandoning the scan session, but 5 magnet dislocations were also recorded. There were no cases of implant device failure or excessive demagnetization of the receiver stimulator magnet. For CI and ABI recipients, the implant caused large voids of around 110 mm × 60 mm with the magnet in situ which reduced to 60 mm × 30 mm when the magnet was removed. However, it was usually possible to visualize the internal acoustic meatus and cerebellopontine angle by positioning the implant package higher and further forward compared with conventional positioning. Conclusion: MRI scanning in ABI and CI recipients is generally safe and well tolerated without magnet removal, and carries a low rate of complications. However, patients should be fully informed of the possibility of discomfort, and precautions such as local anesthetic injection and head bandaging may reduce the likelihood of adverse events.
Objective: The natural history of vestibular schwannomas (VS) is well documented in the literature, with tumour growth being paramount to decision making for both surveillance and treatment of these patients. Most previous studies refer to the risk of VS growth over a given period of time; however, this is not useful for counselling patients at different stages of their follow-up, as the risk of tumour growth is likely to be less following each subsequent year that a tumour does not grow. Accordingly, we investigated the conditional probability of VS growth at particular timepoints, given a patient has not grown thus far. This Bayesian method of risk stratification allows for more tailored and accurate approximations of the risk of growth versus nongrowth of VS. Methods: Retrospective analysis of a prospectively collected database in a tertiary referral skull base unit, containing all patients diagnosed between 2005 and 2014 with sporadic unilateral VS and a minimum of 5-year surveillance. Results: A total of 341 patients met the inclusion criteria. The mean age at diagnosis was 67 years, the sizes of the VS at diagnosis were intracanalicular in 49%, small in 39%, medium in 11%, and large in 1%. Over the entire 5-year surveillance period, a total of 139 tumours were seen to grow (41%) and 202 did not grow (59%). At 1 year, the probability of growth given that the tumour had not grown to date was seen to be 21%, at 2 years 12%, at 3 years 9%, at 4 years 3%, and at 5 years 2%. The conditional probability of growth of extracanalicular VS was significantly higher in the first year when compared with intracanalicular VS (29% versus 13%, p ¼ 0.01), but there was no such difference in years 2, 3, 4 or 5 ( p ¼ 0.60, 0.69, 0.36, 0.39, respectively). Conclusion: This is the first study in the literature concerned specifically with the conditional probability of VS growth. The data presented here can be used to better inform VS patients of their risk of growth at particular time points in their disease-the longer VS have been observed to be stable, the lower the risk of subsequent growth in a given year. Further, an extracanalicular vestibular schwannoma is more likely to grow in the first year compared with an intracanalicular vestibular schwannoma. Our data also adds support to surveillance protocols with increasingly infrequent MRI scans, as after 4 years of not growing, the risk of growth in year 5 falls to <2%.
Objective Observation is a well-accepted management for small- to medium-sized vestibular schwannomas (VSs). Although there are good data on the natural history of this disease within adults, no studies have looked specifically at those aged over 70 years. Thus, there is a need for a surveillance protocol to determine if and when we can stop imaging safely patients aged 70 years and over with a new diagnosis of VSs when managed with observation. Design Over a 13-year period, we retrospectively analyzed all skull base unit patients with a sporadic unilateral VSs managed with an imaging surveillance protocol. All data were collected prospectively with a minimum follow-up of 5 years. Setting Tertiary referral skull base unit Participants Patients aged 70 years and over with sporadic VSs at diagnosis Main Outcome Measures Main outcome measures Results A total of 112 patients met inclusion criteria. The median age at diagnosis was 74 years (range: 70–87 years). The mean follow-up was 82 months (range: 60–144). The size of the VSs at diagnosis was intracanalicular (IC) in 46%, small in 41%, medium in 12%, and large in 2%.Growth was more likely where tumors were extracanalicular (EC) rather than IC at presentation (p = 0.036) and within the first 18 months after diagnosis (p < 0.001). Twenty-nine percent of VSs displayed growth (6% continued surveillance, 23% received active treatment). Good hearing at diagnosis did not predict tumor stability for IC or EC tumors (p = 0.162 and p = 0.536). Conclusions Since no VSs grew after 42 months from diagnosis, our data support an initial magnetic resonance imaging (MRI) at 6 months after diagnosis followed by an annual MRI for 3 years. At this point, consideration could be given to discussing discontinuation or further imaging with patients.
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