scholarly journals REiNS: Imaging Evaluation of Plexiform Neurofibromas in Neurofibromatosis Type 1: A Survey-Based Assessment

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012437
Author(s):  
S. Ahlawat ◽  
K. Ina Ly ◽  
LM Fayad ◽  
MJ. Fisher ◽  
A Lessing ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Clinical Care ◽  
Demographic Data ◽  
High Volume ◽  
Neurofibromatosis Type ◽  
Whole Body ◽  
Imaging Evaluation ◽  
Plexiform Neurofibromas ◽  
Asymptomatic Children

Objective:Assess imaging utilization practices across clinical specialists in neurofibromatosis type 1 (NF1) for the evaluation of symptomatic and asymptomatic children and adults with or without plexiform neurofibromas (PNs).Methods:An IRB-exempt survey was administered to medical practitioners caring for individuals with NF1 at the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) meeting, September 2019. The survey included questions on respondent demographic data (9 questions), type of imaging obtained for asymptomatic (4 questions) and symptomatic (4 questions) people with and without PNs, and utilization of diffusion-weighted imaging (DWI, 2 questions).Results:30 practitioners participated in the survey. Most were academic neuro-oncologists at high-volume (>10 patients/week) NF1 centers. 26/30 respondents had access to whole-body (WB)-MRI. The most common approach to an asymptomatic person without PNs was no imaging (adults: 57% (17/30); children: 50% (15/30)), followed by a screening WB-MRI (adults: 20% (6/30); children: 26.7% (8/30)). The most common approach to a person with symptoms or known PNs was regional MRI (adults: 90% (27/30); children: 93% (28/30)), followed by WBMRI (adults: 20% (6/30); children: 36.7% (11/30)). WB-MRI was most often obtained to evaluate a symptomatic child with PNs (37% (11/30)).Conclusions:More than 90% of practitioners indicated they would obtain a regional MRI in a symptomatic patient without known/visible PN. Otherwise, there was little consensus on imaging practices. Given the high prevalence of PNs and risk of malignant conversion in this patient population, there is a need to define imaging-based guidelines for optimal clinical care and the design of future clinical trials.

scholarly journals Whole-body MRI Evaluation in Neurofibromatosis type 1 Patients Younger than 3 Years Old and the Genetic Contribution to Disease Progression

2021 ◽  
Author(s):  
Eungu Kang ◽  
Yoon-Myung Kim ◽  
Yunha Choi ◽  
Yena Lee ◽  
JunYoung Kim ◽  
...  
Keyword(s):  
Disease Progression ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Whole Body ◽  
Optic Pathway Glioma ◽  
Optic Pathway ◽  
Genetic Contribution ◽  
Plexiform Neurofibromas ◽  
Peripheral Nerve Sheath Tumors

Abstract Background: Neurofibromatosis type 1 (NF1) is a common human genetic disease with age-dependent phenotype progression. The overview of clinical and radiological findings evaluated by whole-body magnetic resonance imaging (WBMRI) in NF1 patients <3 years old assessed with a genetic contribution to disease progression is presented herein.Methods: This study included 70 clinically or genetically diagnosed NF1 patients who received WBMRI before 3 years old. Clinical, genetic, and radiologic features were collected by retrospective chart review. In NF1+, widely spread diffuse cutaneous neurofibromas, developmental delay, autism, seizure, cardiac abnormalities, hearing defect, optic pathway glioma, severe plexiform neurofibromas (>3 cm in diameter, disfigurement, accompanying pain, bony destruction, or located para-aortic area), brain tumors, nerve root tumors, malignant peripheral nerve sheath tumors, moyamoya disease, and bony dysplasia were included.Results: The age at WBMRI was 1.6 ± 0.7 years old, and NF1 mutations were found in 66 patients (94.3%). Focal areas of signal intensity (FASI) were the most common WBMRI finding (66.1%), followed by optic pathway glioma (15.7%), spine dural ectasia (12.9%), and plexiform neurofibromas (10.0%). Plexiform neurofibromas and NF1+ were more prevalent in familial case (28.7% vs 5.7%, p = 0.030; 71.4% vs 30.2%, p = 0.011). Follow-up WBMRI was conducted in 42 patients (23 girls and 19 boys) after 1.21 ± 0.50 years. FASI and radiologic progression were more frequent in patients with mutations involving GTPase activating protein-related domain (77.8% vs 52.4%, p = 0.047; 46.2% vs 7.7%, p = 0.029).Conclusions: WBMRI provides important information for the clinical care for young pediatric NF1 patients. As NF1 progresses in even these young patients, and is related to family history and the affected NF1 domains, serial evaluation with WBMRI should be assessed based on the clinical and genetic features for the patients’ best care.

scholarly journals Phenotyping spinal abnormalities in patients with Neurofibromatosis type 1 using whole-body MRI

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Well Lennart ◽  
Careddu Anna ◽  
Stark Maria ◽  
Farschtschi Said ◽  
Bannas Peter ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Mutational Analysis ◽  
Clinical Symptoms ◽  
Clinical Care ◽  
Neurofibromatosis Type ◽  
Whole Body ◽  
Spinal Tumors ◽  
Control Group ◽  
Binary Logistic Regression Analysis

AbstractNeurofibromatosis Type 1 (NF1) has been reported to be associated with a variety of spinal abnormalities. The purpose of this study was to quantify the prevalence of spinal abnormalities in a collective of NF1 patients that is representative for the general NF1 population, to associate the co-appearance of spinal abnormalities with both NF1 and clinical symptoms and to investigate if different mutations of the NF1 gene affect the prevalence of these abnormalities. Retrospectively, 275 patients with NF1 and an age- and sex-matched collective of 262 patients were analyzed. The prevalence of spinal abnormalities was recorded. Mutational analysis of the NF1 gene was obtained in 235 NF1 patients. Associations between spinal abnormalities, clinical symptoms and genotype were investigated by binary logistic regression analysis. Prevalence of all spinal abnormalities was higher in NF1 patients than in the control group. Six characteristics of spinal abnormalities were significantly associated with NF1 (all p < 0.05). An influence of scalloping on scoliosis (OR 3.01; p = 0.002); of meningoceles (OR 7.63) and neuroforaminal tumors (OR 2.96) on scalloping, and of dural ectasia on neuroforaminal tumors (OR 1.93) was identified. Backpain and loss of motor function were associated with neuroforaminal tumors, spinal tumors and scalloping of vertebral bodies (all p < 0.05). Specific mutations of the NF1 gene were not relevantly associated with the development of spinal abnormalities. These findings can aid clinicians to improve clinical care of NF1 patients by creating awareness for co-appearences of specific spinal abnormalities and associated symptoms.

scholarly journals Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas

2016 ◽  
Vol 375 (26) ◽  
pp. 2550-2560 ◽  
Author(s):  
Eva Dombi ◽  
Andrea Baldwin ◽  
Leigh J. Marcus ◽  
Michael J. Fisher ◽  
Brian Weiss ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas

Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings

2018 ◽  
Vol 39 (8) ◽  
pp. 1112-1125 ◽  
Author(s):  
Meritxell Carrió ◽  
Bernat Gel ◽  
Ernest Terribas ◽  
Adriana Carolina Zucchiatti ◽  
Teresa Moliné ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Intratumor Heterogeneity ◽  
Plexiform Neurofibromas ◽  
Atypical Features

scholarly journals NIMG-66. LONG-TERM FOLLOW-UP OF NEUROFIBROMATOSIS TYPE 1 PATIENTS USING WHOLE-BODY MRI DEMONSTRATES DYNAMIC CHANGES IN INTERNAL NEUROFIBROMA SIZE

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi176-vi176
Author(s):  
Ina Ly ◽  
Raquel Thalheimer ◽  
Wenli Cai ◽  
Miriam Bredella ◽  
Vanessa Merker ◽  
...  
Keyword(s):  
Tumor Growth ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Whole Body ◽  
Childhood And Adolescence ◽  
Entire Study ◽  
Whole Body Mri

Abstract BACKGROUND Neurofibromas affect 40–50% of neurofibromatosis type 1 (NF1) patients and can cause significant morbidity and mortality. They grow more rapidly during childhood and adolescence but studies in adults are limited by their retrospective nature and follow-up time < 3 years. The long-term natural history of neurofibromas remains unknown. No guidelines exist on the need and frequency of surveillance imaging for patients. Whole-body MRI (WBMRI) can detect whole-body tumor burden, including internal neurofibromas. METHODS 17 adult NF1 patients who underwent WBMRI between 2007–2010 (Scan 1) underwent repeat WBMRI between 2018–2019 (Scan 2). Internal neurofibromas were segmented on short tau inversion recovery (STIR) sequences and tumor volume was calculated using a computerized volumetry and three-dimensional segmentation software. Circumscribed tumors were defined as discrete; invasive tumors or those involving multiple nerves were defined as plexiform. Tumor growth and shrinkage were defined as volume change ≥ 20% over the entire study period. RESULTS Median patient age was 43 years during Scan 1 and 53 years during Scan 2. Median time between Scan 1 and 2 was 9 years. A total of 140 neurofibromas were assessed. 24% of tumors grew by a median 63% (6.8% per year). 54% of tumors spontaneously decreased in volume by a median 60% (7% per year) without treatment. On a per-patient basis, 18% of patients had overall tumor growth and 41% overall tumor shrinkage. 8 new tumors developed in 7 patients. 16 tumors resolved entirely without medical or surgical intervention. Growth behavior did not correlate with discrete or plexiform morphology. CONCLUSION A subset of internal neurofibromas in adult NF1 patients grow significantly over a long-term period, suggesting that continued monitoring of these patients may be warranted. Surprisingly, more than half of neurofibromas shrink spontaneously without intervention. Continued patient enrollment and correlation of imaging findings with functional outcomes are underway.

Sign in / Sign up

Export Citation Format

Share Document