NCOG-13. THE IMPACT OF CME ON THE KNOWLEDGE OF NEUROFIBROMATOSIS TYPE 1-RELATED TUMORS

Abstract BACKGROUND Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by a wide spectrum of clinical findings. Patients with NF1 develop benign and malignant tumors along the nerves of the skin, brain, and other body parts. Due to the unique presentation of each patient, clinicians are challenged to stay current with emerging data and how best to integrate new agents into multidisciplinary treatment paradigms. The objective of this study was to assess changes in neurologists’ and pediatricians’ knowledge and confidence through participation in education regarding NF1 treatment. METHODS The educational activity consisted of a 30-minute online enduring, 1 faculty, chapterized summary of a live symposium. Educational effect was assessed with a repeated pairs pre-/post-assessment study with a 3-item, multiple choice, knowledge questionnaire and one confidence assessment question. For all questions, each participant served as his/her own control. Pre- and post-assessment scores were compared to determine relative changes in the proportion of correct responses. A chi-square test assessed statistical significance at the P < 0.05 level. The activity launched 23rd December 2019; data were collected until 2nd April 2020. RESULTS Overall, statistically significant improvements were seen after education for neurologists (N=171, P < 0.05) and pediatricians (N=260, P < 0.01). The relative improvement in correct answers was 26% for neurologists and 48% for pediatricians (percent of total correct responses pre-/post-assessment were 27%/34% and 23%/34%, respectively). Following the activity, 16% of neurologists and 22% of pediatricians had a measurable increase in confidence regarding their understanding of multidisciplinary management of NF1. CONCLUSIONS Participation in an online, 30-minute enduring CME intervention resulted in statistically significant improvements in knowledge and confidence of neurologists and pediatricians, that result in improvements in clinical care. Continued educational activities are paramount to address residual gaps and further increase clinicians’ confidence in this clinical setting.

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The impact of host immune cells on the development of neurofibromatosis type 1: The abnormal immune system provides an immune microenvironment for tumorigenesis

Neuro-Oncology Advances ◽

10.1093/noajnl/vdz037 ◽

2019 ◽

Vol 2 (Supplement_1) ◽

pp. i33-i39

Author(s):

Cheng-Jiang Wei ◽

Shu-Chen Gu ◽

Jie-Yi Ren ◽

Yi-Hui Gu ◽

Xiang-Wen Xu ◽

...

Keyword(s):

Immune System ◽

Immune Cells ◽

Neurofibromatosis Type 1 ◽

Immune Escape ◽

Genetic Disorder ◽

Neurofibromatosis Type ◽

Complex Interactions ◽

Nf1 Gene ◽

The Impact

Abstract AbstractThe immune system plays an essential role in the development of tumors, which has been demonstrated in multiple types of cancers. Consistent with this, immunotherapies with targets that disrupt these mechanisms and turn the immune system against developing cancers have been proven effective. In neurofibromatosis type 1 (NF1), an autosomal dominant genetic disorder, the understanding of the complex interactions of the immune system is incomplete despite the discovery of the pivotal role of immune cells in the tumor microenvironment. Individuals with NF1 show a loss of the NF1 gene in nonneoplastic cells, including immune cells, and the aberrant immune system exhibits intriguing interactions with NF1. This review aims to provide an update on recent studies showing the bilateral influences of NF1 mutations on immune cells and how the abnormal immune system promotes the development of NF1 and NF1-related tumors. We then discuss the immune receptors major histocompatibility complex class I and II and the PD-L1 mechanism that shield NF1 from immunosurveillance and enable the immune escape of tumor tissues. Clarification of the latest understanding of the mechanisms underlying the effects of the abnormal immune system on promoting the development of NF1 will indicate potential future directions for further studies and new immunotherapies.

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Optimizing management of glioblastoma: Educational impact on clinicians.

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.15_suppl.11026 ◽

2020 ◽

Vol 38 (15_suppl) ◽

pp. 11026-11026

Author(s):

Michelle Arielle Worst ◽

Ann Carothers ◽

Kinjal Parikh ◽

Lisa Brauer ◽

Giuseppe Lombardi ◽

...

Keyword(s):

Clinical Care ◽

Statistical Significance ◽

Treatment Options ◽

Educational Activity ◽

Molecular Testing ◽

Chi Square ◽

Assessment Scores ◽

Confidence Assessment ◽

Investigational Agents ◽

Post Assessment

11026 Background: Glioblastoma multiforme (GBM) is a rare, malignant tumor of the central nervous system (CNS) with poor prognosis. Nearly all patients experience recurrence due to GBM’s heterogeneity and there is currently no standard approach to treatment. Despite having few targeted agents with demonstrated efficacy, molecular testing is utilized due to its value in improving diagnostic accuracy and prognostic stratification. Moreover, recent data has shown an increase in promising data with regards to treating GBM using various mechanisms. Because of the clinical conundrum GBM poses and the lack of available treatment options, clinicians are challenged to stay current with new data and how best to integrate new agents into treatment paradigms. The objective of this study was to assess the changes in oncologists’ and pathologists’ knowledge through participation in education regarding optimal GBM treatment. Methods: The educational activity was a 30-minute online, video discussion segmented into 3 parts with synchronized slides and 2 faculty. Educational effect was assessed with a repeated pairs pre-/post-assessment study with a 3-item, multiple choice, knowledge questionnaire and one confidence assessment question. For all questions, each participant served as his/her own control. Pre- and post-assessment scores were compared to determine the relative changes in the proportion of correct responses. A chi-square test assessed statistical significance at the P < 0.05 level. The activity launched 26th June 2019; data were collected until 19th August 2019. Results: Overall significant improvements were seen after education for oncologists (N = 62, P < .001) and pathologists (N = 67, P < .01). The relative improvement was 67% for oncologists and 45% for pathologists (pre-/post-assessment average correct response rates were 30%/50% and 29%/42%, respectively). Following the activity, 55% of oncologists and 51% of pathologists had a measurable improvement in confidence in their ability to differentiate among late-stage investigational agents for GBM based on mechanism of action. Conclusions: Participation in an online, CME intervention consisting of a series of video discussions, totaling 30-minutes, resulted in statistically significant improvements in knowledge and confidence of oncologists and pathologists, that may lead to improvements in clinical care. As new data and agents emerge, new educational activities are necessary to reinforce knowledge, close persistent gaps, and increase oncologists’ and pathologists’ confidence in this clinical setting.

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Understanding the expanding armamentarium for GIST: Engaged learning outcomes.

Journal of Clinical Oncology ◽

10.1200/jco.2020.38.4_suppl.837 ◽

2020 ◽

Vol 38 (4_suppl) ◽

pp. 837-837

Author(s):

Michelle Arielle Worst ◽

Emily Sherene Van Laar ◽

Mindy Tanzola ◽

Michael C. Heinrich ◽

Victor Manuel Villalobos

Keyword(s):

Clinical Care ◽

Statistical Significance ◽

Soft Tissue Sarcomas ◽

Educational Activity ◽

Chi Square ◽

Assessment Scores ◽

Confidence Assessment ◽

Resistance Patterns ◽

Chi Square Test ◽

Post Assessment

837 Background: Gastrointestinal stromal tumors (GIST) are rare soft-tissue sarcomas that harbor specific genomic alterations, making GIST an ideal model for targeted therapy. Common oncogenic drivers include mutations in the KIT and PDGFR tyrosine kinase. Due to varying resistance patterns to existing TKIs, clinicians are challenged to stay current with new data and how best to integrate new agents into treatment paradigms. The objective of this study was to assess the changes in oncologists’ and gastroenterologists’ knowledge, competence, and confidence through participation in education regarding optimal GIST treatment. Methods: The educational activity consisted of a 30-minute online, 2 faculty, video discussion with synchronized slides. Educational effect was assessed with a repeated pairs pre-/post-assessment study with a 3-item, multiple choice, knowledge/competence questionnaire and one confidence assessment question. For all questions, each participant served as his/her own control. Pre- and post-assessment scores were compared to determine the relative changes in the proportion of correct responses. A chi-square test assessed statistical significance at the P < 0.05 level. The activity launched 25th June 2019; data were collected until 19th August 2019. Results: Overall significant improvements were seen after education for oncologists (N=52, P < 0.001) and gastroenterologists (N=127, P < 0.01). The relative improvement was 79% for oncologists and 44% for gastroenterologists (pre-/post-assessment average correct response rates were 24%/43% and 23%/33%, respectively). Following the activity, 44% of oncologists and 37% of gastroenterologists were more confident in their ability to select appropriate therapy for patients with metastatic GIST. Conclusions: Participation in an online, 30-minute video discussion CME intervention resulted in statistically significant improvements in knowledge, competence, and confidence of oncologists and gastroenterologists, that may lead to improvements in clinical care. As new data and agents emerge, new educational activities are necessary to reinforce knowledge, close persistent gaps, and increase oncologists’ confidence in this clinical setting.

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Abdominal neoplastic manifestations of neurofibromatosis type 1

Neuro-Oncology Advances ◽

10.1093/noajnl/vdaa032 ◽

2020 ◽

Vol 2 (Supplement_1) ◽

pp. i124-i133

Author(s):

Anna J Dare ◽

Abha A Gupta ◽

Seng Thipphavong ◽

Markku Miettinen ◽

Rebecca A Gladdy

Keyword(s):

Neurofibromatosis Type 1 ◽

Wide Spectrum ◽

Multidisciplinary Care ◽

Neurofibromatosis Type ◽

Peripheral Nerve Sheath Tumors ◽

Hereditary Tumor Syndrome ◽

P21 Ras ◽

Nf1 Gene ◽

Multifocal Disease

Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary tumor syndrome, with a wide clinicopathologic spectrum. It is defined by characteristic central nervous system, cutaneous and osseous manifestations, and by mutations in the NF1 gene, which is involved in proliferation via p21, RAS, and MAP kinase pathways. Up to 25% of NF1 patients develop intra-abdominal neoplastic manifestations including neurogenic (commonly plexiform neurofibromas and malignant peripheral nerve sheath tumors), interstitial cells of Cajal (hyperplasia, gastrointestinal stromal tumors), neuroendocrine, and embryonal tumors (rhabdomyosarcoma). Nonspecific symptoms, multifocal disease, or coexistence of 2 or more tumor types make patients challenging to diagnose and manage. Screening for intra-abdominal tumors in NF1 patients remains controversial, and currently no guidelines are established. Management decisions are complex and often informed by single-center experiences or case studies in the literature, though the field is rapidly evolving. Thus, NF1 patients should be followed in specialist centers familiar with their wide spectrum of pathology and with multidisciplinary care including specialized pathology and radiology. This review will (1) provide a contemporaneous synthesis of the literature and our multi-institutional clinical experiences with intra-abdominal neoplasms in NF1 patients, (2) present a classification framework for this heterogeneous group of disorders, and (3) outline approaches to screening, surveillance, diagnosis, and management.

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The mediating effects of quality of life, depression, and generalized anxiety on perceived barriers to employment success for people diagnosed with Neurofibromatosis Type 1

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01866-6 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Frank D. Buono ◽

Matthew E. Sprong ◽

Erina Paul ◽

Staci Martin ◽

Kaitlyn Larkin ◽

...

Keyword(s):

Quality Of Life ◽

Neurofibromatosis Type 1 ◽

Genetic Disorder ◽

Neurofibromatosis Type ◽

Physical Symptoms ◽

Anxiety And Depression ◽

Successful Employment ◽

The Impact

Abstract Background Neurofibromatosis Type 1 (NF1) is a genetic disorder that presents with physical symptoms that can negatively impact numerous areas of one’s life, including occupational and psychological functioning, with decreased quality of life compared to a normative population. The purpose of the current study was to explore differences in the impact of psychological factors (anxiety and depression), quality of life and employment hope on barriers to successful employment between those with NF1 and matched controls. Methods A total of 212 individuals were stratified into two groups (NF1 and matched controls) using a cross-sectional design that collected a one-time response. Results A mediation analysis in which total barriers to successful employment on the differences between groups with quality of life, anxiety and depression as the mediators, and levels of employment hope as the co-variates were examined. The results confirmed a direct (.001) and indirect (< .001) relationship between barriers to successful employment with NF1 to matched controls, and with quality of life, anxiety, and depression. Conclusions The current findings indicate that the barriers to successful employment for individuals with NF1 impact their quality of life, anxiety, and depression more than that of the matched controls. Poorer barriers of employment observed amongst people with a genetic disease can impact mental health and quality of life.

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Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention

Journal of Child Neurology ◽

10.1177/0883073820981270 ◽

2021 ◽

pp. 088307382098127

Author(s):

Maëlle Biotteau ◽

Elodie Tournay ◽

Eloise Baudou ◽

Sandrine Destarac ◽

Stéphanie Iannuzzi ◽

...

Keyword(s):

Reading Comprehension ◽

Neurofibromatosis Type 1 ◽

Child Behavior Checklist ◽

Sentence Comprehension ◽

Performance Test ◽

Neurofibromatosis Type ◽

Reading Level ◽

Multimodal Assessment ◽

The Impact

Attention span, which has been shown to have an impact on reading quality in many other conditions, is one of the main cognitive disorders of neurofibromatosis type 1 (NF1). The aim of this work is to observe the impact of attention on reading comprehension, in NF1 and non-NF1 children. A multicenter, cross-sectional study was conducted on 150 children (8-12 years old) with or without NF1 (75 NF1 vs 75 non-NF1; 72 female, 78 male), matched for age, sex, handedness, and reading level, thus forming a continuum from good to poor readers in both NF1 and non-NF1 groups. Children with intellectual deficiency or neurologic or psychiatric disorder were excluded. Attentional skills were assessed by combining a parent questionnaire (Child Behavior CheckList) and a performance-based assessment (Conner’s Continuous Performance Test–Second Edition). Reading comprehension was assessed through a standardized reading comprehension test (ORLEC Lobrot). The performance-based attention scores were associated with text and sentence comprehension ability ( P = .0235 and P = .0164, respectively), while indirect questionnaire attention scores were only associated with sentence comprehension ( P = .0263). For both groups, the correlations between questionnaire and performance-based measures were low. We have shown that reading comprehension is greatly influenced by attention in NF1 and non-NF1, even if predictors of good reading comprehension also include IQ score and reading accuracy. Indirect observer-rated questionnaires and direct performance-based measures of attention do not assess the same variables, are linked to different components of reading skills, and are not interchangeable assessments of attention difficulties. Both assessments are complementary and must be used simultaneously, leading to recommendations that support multimodal assessment of attention.

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The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

Journal of Genetic Counseling ◽

10.1007/s10897-015-9829-5 ◽

2015 ◽

Vol 24 (6) ◽

pp. 931-944 ◽

Cited By ~ 13

Author(s):

Hilda A. Crawford ◽

Belinda Barton ◽

Meredith J. Wilson ◽

Yemima Berman ◽

Valerie J. McKelvey-Martin ◽

...

Keyword(s):

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Health And Wellbeing ◽

The Impact

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

Neurology ◽

10.1212/wnl.0000000000012437 ◽

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.

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

Scientific Reports ◽

10.1038/s41598-021-96310-x ◽

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.

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A qualitative study of the impact of plexiform neurofibromas on need fulfilment in adults with neurofibromatosis type 1

SAGE Open Medicine ◽

10.1177/2050312119829680 ◽

2019 ◽

Vol 7 ◽

pp. 205031211982968 ◽

Cited By ~ 2

Author(s):

Alice Heaney ◽

Jeanette Wilburn ◽

Shannon Langmead ◽

Jaishri Blakeley ◽

Susan Huson ◽

...

Keyword(s):

United States ◽

United Kingdom ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Patient Reported Outcome Measures ◽

Patient Reported Outcome ◽

Plexiform Neurofibromas ◽

Patient Reported ◽

The Impact

Objective: To explore the impact of plexiform neurofibromas on the lives of adults with neurofibromatosis type 1. Background: Neurofibromatosis type 1 is a complex neurogenetic syndrome that affects many aspects of health and functioning. A common manifestation of neurofibromatosis type 1 is plexiform neurofibromas, non-cancerous tumours that can cause disfigurement, pain and neurologic disability. Patient-reported outcome measures used in this condition have addressed symptoms and functional ability but not how the condition affects patients’ lives, particularly, their ability to meet their human needs. Methods: Unstructured qualitative interviews were conducted with adults with neurofibromatosis type 1–associated plexiform neurofibromas in the United Kingdom and United States. Interviewees were encouraged to describe how plexiform neurofibromas affected their ability to meet their needs. Interviews were audio-recorded and transcribed verbatim. The UK and US transcripts were combined and theoretical thematic analysis was conducted. Results: In all, 42 interviews (United Kingdom = 20, United States = 22) were conducted. Transcripts revealed 696 statements on the impact of plexiform neurofibromas on need fulfilment. Five major themes emerged: appearance, relationships, independence, role fulfilment and pleasure. Conclusion: Neurofibromatosis type 1–associated plexiform neurofibromas have a major effect on individuals’ ability to meet their needs. An understanding of need fulfilment will complement information generated from traditional patient-reported outcome measures, particularly in a multi-faceted syndrome such as neurofibromatosis type 1.

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