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Neurofibromatosis type 2 is a neurogenetic disorder with an incidence of about 1:33.000. Hallmarks are bilateral benign vestibular schwannomas, which can lead to deafness or brainstem compression. Volumetric tumor measurements are essential to assess the efficacy of new therapies. We present a statistical and methodical comparison of three volumetric image analysis tools. We performed volumetric measurements on phantoms with predefined volumes (0.1 to 8.0 ml) and tumors seen on 32 head MRI scans from eight NF2 patients with BrainLab, ITK-Snap, or OsiriX. The software was compared with regard to accuracy and reproducibility of the measurements and time required for analysis. The mean volume estimated by all three software programs differed significantly from the true volume of the phantoms, but OsiriX and BrainLab gave estimates that were not significantly different from each other. For the actual tumors, the estimated volumes with all three software tools showed a low coefficient of variability, but the mean volume estimates differed among the tools. OsiriX showed the shortest analysis time. Volumetric assessment of MRI images is associated to an intrinsic risk of miscalculation. For precise volumes it is mandatory to use the same volumetric tools for all measurements.

OBJECTIVES: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN), to recommend optimal image acquisition and analysis methods to enable WB-MRI as an endpoint in NF clinical trials.METHODS: A systematic process was used to review all published data about WB-MRI in NF syndromes to assess diagnostic accuracy, feasibility and reproducibility, and data about specific techniques for assessment of tumor burden, characterization of neoplasms, and response to therapy.RESULTS: WB-MRI at 1.5T or 3.0T is feasible for image acquisition. Short tau inversion recovery (STIR) sequence is used in all investigations to date, suggesting consensus about the utility of this sequence for detection of WB tumor burden in people with NF. There are insufficient data to support a consensus statement about the optimal imaging planes (axial vs coronal) or 2D vs 3D approaches. Functional imaging, although used in some NF studies, has not been systematically applied or evaluated. There are no comparative studies between regional vs WB-MRI or evaluations of WB-MRI reproducibility.CONCLUSIONS: WB-MRI is feasible for identifying tumors using both 1.5T and 3.0T systems. The STIR sequence is a core sequence. Additional investigation is needed to define the optimal approach for volumetric analysis, the reproducibility of WB-MRI in NF, and the diagnostic performance of WB-MRI vs regional MRI.

Background: Plexiform neurofibromas are benign tumours that occur in more than half of people with neurofibromatosis 1 (NF1). These tumours can cause serious complications and can also progress to malignant peripheral nerve sheath tumours (MPNSTs), one of the leading causes of death among NF1 patients. Plexiform neurofibromas are clinically heterogeneous, and knowledge of their natural history is limited. In order to characterise the growth of plexiform neurofibromas better, we performed serial magnetic resonance imaging (MRI) in NF1 patients with such tumours. Methods: MRI was done on 44 plexiform neurofibromas in 34 NF1 patients (median age 10 years; range 1–47 years). Each tumour was measured in two dimensions from the MRI scan, and the area and growth rate were calculated. The median length of follow-up was 6 years, with an average interval of 3 years between scans. Results: 36 tumours remained stable in size throughout the period of follow-up. 8 tumours increased in size; all occurred in patients who were under 21 years of age when first studied. The single exception was a man who developed rapid tumour growth and pain in a plexiform neurofibroma that had been followed for 10 years. Biopsy showed the presence of an MPNST. Conclusion: Longitudinal MRI is a valuable means of monitoring the growth of plexiform neurofibromas in individuals with NF1.

Fallbeschreibung: Wir berichten uber ein 10-jahriges Madchen mit komplexer zerebraler Fehlbildung bei Zustand nach fruhkindlicher Meningoenzephalitis und shuntversorgtem Hydrozephalus, das nach einem Bagatelltrauma einen Pneumencephalus erlitt. Es bestand keine Rhinoliquorrho; eine extra-/intrakranielle Kommunikation musste aber wegen der intraventrikularen Luft vorliegen. Eine Dysfunktion des Stuntsystems wurde klinisch und radiologisch ausgeschlossen. Weder natives MRT noch hochauflosende CT konnten zweifelsfrei den Fistelpunkt identifizieren, der im Ethmoidalzellsystem oder an der Stirnhohlenhinterwand vermutet wurde. Fur die notwendige neurochirurgische Operation war es erforderlich, den Zugangsweg sicher zu definieren. Erganzend wurde daher eine MRT-Untersuchung mit intrathekaler Gabe von Gadolinium durchgefuhrt. Mittels intrathekaler Gd-Myelozisternographie konnte ein frontaler Fistelpunkt identifiziert werden. Nach erfolgreicher plastischer Deckung der linken Stirnhohle und der linken Frontobasis sistierte der Pneumencephalus und die intraventrikulare Luft wurde im Verlauf resorbiert. Die klinische Symptomatik bildete sich zuruck.

To develop a three-dimensional (3D) segmentation and computerized volumetry technique for use in the assessment of neurofibromatosis and to assess the ability of this technique to aid in the calculation of tumor burden in patients with neurofibromatosis types 1 and 2 (NF1 and NF2, respectively) and schwannomatosis detected with whole-body magnetic resonance (MR) imaging.Institutional review board approval and written informed consent were obtained for this prospective HIPAA-compliant study. Fifty-two subjects (27 women, 25 men; mean age, 42 years +/- 15 [standard deviation]; age range, 24-86 years) underwent whole-body MR imaging performed with coronal short inversion time inversion-recovery (STIR) sequences. Whole-body tumor burden was estimated with a 3D segmentation method (the dynamic-threshold [DT] level set method) in 29 subjects (16 with NF1, six with NF2, and seven with schwannomatosis) in whom at least one nerve sheath tumor was reliably identified on MR images. Fifty tumors (25 plexiform and 25 discrete tumors) were randomly selected and subjected to manual and computerized volumetry to assess reliability. Ten plexiform tumors 5 cm or larger in diameter were retrospectively selected and segmented with three initialization methods for computerized volumetry and manually contoured by three radiologists to assess repeatability. Bland-Altman analysis was performed, and intraclass correlation coefficients (ICCs) were calculated.A total of 398 nerve sheath tumors (185 plexiform and 213 discrete tumors) were identified in 29 subjects. Volumetric measurements obtained with the computerized method and manual contouring were highly correlated (r(ICC) = 0.99). Bland-Altman analysis showed that computerized volumetry had a mean difference of -2.6% compared with manual volumetry. The repeatability coefficient of the computerized scheme was +/-5% compared with +/-30% for manual contouring.This 3D segmentation and computerized volumetry technique is reliable relative to manual segmentation and has the advantage of being less labor intensive and more repeatable. This technique can be paired with whole-body MR imaging to determine tumor burden in patients with neurofibromatosis.http://radiology.rsnajnls.org/cgi/content/full/250/3/665/DC1

6136 Background: NF1, NF2, and schwannomatosis are a group of related genetic disorders in which affected individuals share the predisposition to develop multiple nerve sheath tumors. While previous studies have investigated the relationship between cutaneous tumor burden and quality of life, the relation between internal tumors and quality of life is unknown. Methods: As part of an IRB-approved research study, we performed whole-body MRI and administered the short form (SF)-36 to 245 adult subjects with NF. The number and location of internal nerve sheath tumors in each patient was identified by a board-certified radiologist and tumor volume was calculated using semi-automated volumetric analysis. One sample t-tests were used to compare subjects’ SF-36 scores to general population means. Independent linear regression analyses controlling for age and gender effects were used to relate whole-body tumor count, volume, and distribution (via Gini coefficient) to each domain of the SF-36. Results: 245 patients (142 with NF1, 53 with NF2, 50 with schwannomatosis) completed the study. On the SF-36, subjects with NF1 showed reduced quality of life in the physical role, emotional role, and mental health domains compared to the normal population (p

Background Non-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas in adults and compare these findings to the results found in children. Results One thousand seven hundred twenty-two brain MRI scans of 562 unselected individuals with NF1 were collected at the NF outpatient department of the University Hospital Hamburg-Eppendorf between 2003 and 2015. The number of scans per patient ranged from one to 12; patients were followed for a median of 3.7 years. We identified 24 patients (4.3%) with non-optic gliomas. Median age at first scan with glioma was 21.2 years, much higher than in previous publications. Only seven of the 24 non-optic glioma patients were symptomatic. Five of 24 patients had multiple non-optic gliomas. Four individuals developed a new tumour, and 4 cases showed progression. The risk of new tumour development was 0.19% (95% confidence interval 0.06% to 0.52%) per patient year of follow-up for patients over 10 years. The rate of progressing non-optic gliomas per patient year of follow-up in the first 5 years after tumour diagnosis was 4.7% (95% confidence interval 1.5% to 12%). Conclusions Non-optic gliomas are twice as common in an unselected cohort of NF1 patients as previously reported. This is likely due to increased frequency of diagnosis of asymptomatic tumours when routine MRIs are performed and a higher prevalence in older individuals.