Abstract Book 2019 NF Conference SEPTEMBER 21-24, 2019 HYATT REGENCY SAN FRANCISCO, CA CTF NF Conference Program Cover-2019.indd 1 8/28/19 10:28 PM CONTENTS Table of Contents INFORMATION Continuing Medical Education .................................................................................................5 Important Notes To Speakers, Chairs & Poster Presenters .......................................................6 SPEAKER ABSTRACTS Abstracts ...............................................................................................................................7 POSTER ABSTRACTS Basic Research (Location – Pacific H-O) ..............................................................................53 Clinical (Location – Pacific H-O) ...........................................................................................87 2019 NF Conference · San Francisco, CA · September 21-24, 2019 | 3 4 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research CME ACCME Accreditation Statement: This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education through the joint providership of the Medical College of Wisconsin and Children’s Tumor Foundation. The Medical College of Wisconsin is accredited by the ACCME to provide continuing medical education for physicians. AMA Credit Designation Statement: The Medical College of Wisconsin designates this for a maximum of 30.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Hours of Participation for Allied Health Care Professionals: The Medical College of Wisconsin designates this activity for up to 30.0 hours of participation for continuing education for allied health professionals. 2019 NF Conference · San Francisco, CA · September 21-24, 2019 | 5 IMPORTANT NOTES Important Notes to Speakers, Chairs & Poster Presenters Important Notes to Speakers, Chairs & Poster Presenters NOTE TO SPEAKERS • Bring your slides to the meeting on a flash drive. You may use your own laptop if you prefer. CTF staff will be available at registration to assist you uploading your presentation. Please make every effort to have your slides ready well in advance of your presentation. • Please be available at the podium prior to the session in which you will be speaking to understand the a/v setup and make sure your slideshow is running smoothly. • Verify the length of your talk and be prepared to complete it on time. There will be a CTF staff member seated in the front row to assist you with visual prompts. • If you run over time, you may be “cut off”. Briefly summarize what you see as the “take home” points of the session. NOTE TO SESSION CHAIRS • Please stand by the podium 30 minutes before the start of the session you are chairing to ensure speakers have arrived, go through a/v setup, etc. • It is your responsibility to convene and conclude your session PROMPTLY per the schedule. • Introduce speakers by name and affiliation, and whether they invited or platform speakers. • It is your responsibility to keep your speakers ON TIME. A CTF staff member will be seated in the front row to assist with visual prompts. You are also encouraged to give a 3-minute warning. • When fielding questions from the audience, have the audience member identify him/herself, and ensure they speak into the microphone. • At the close of the session, please briefly summarize what you see as the key ‘take home’ points of the session. PREPARING A SUMMARY OF YOUR SESSION • The meeting co-chairs will be assembling a report from the Conference that can translate into a publication after the meeting. Session co-chair(s) are requested to collaborate on providing a one to two page summary of your session. This should be succinct but sufficiently comprehensive to be meaningful. You are encouraged to liaise with your session speakers in putting this together. If there are critical references you want to mention please include the citation for reference. • PLEASE SUBMIT YOUR SUMMARY TO PATRICE PANCZA BY THE END OF OCTOBER. NOTE TO POSTER PRESENTERS • Posters will be on display throughout the Conference, SEPTEMBER 21 – 24TH in Pacific H-O. • Posters can be set up Friday afternoon, Sept. 20th, starting at 6pm; your poster should be on display for the duration of the Conference. • This year’s poster sessions are combined for both basic and clinical science and is scheduled for Sunday afternoon from 5:05pm – 7:05pm. You must be present at your poster during this time. • Preceeding the poster session will be the “Poster Advertisement” session, where the pre-selected top candidates for the poster contest will give a one minute/one-slide presentation promoting their poster. • A jury will select the top three posters presented. The winners will be given the opportunity to present for 10 minutes including 3 minutes of Q&A and will receive an award during the poster review session scheduled for Tuesday, 9am –10am. • All attendees will be invited to vote for their choice of the top basic and clinical science poster – the winners will receive a “People’s Choice Poster Award”. Questions? Please contact a Foundation staff member! 6 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research ABSTRACTS Important Notes to Speakers, Chairs & Poster Presenters Speaker Abstracts CLINICAL CARE SYMPOSIUM: NF Diagnostic Criteria and Care Guidelines Organized by the Clinical Care Advisory Board of the Children’s Tumor Foundation. Saturday, September 21, 8:00am – 12:00pm Planning Committee: Scott Plotkin, MD, PhD, Massachusetts General Hospital; Elizabeth Schorry, MD, Cincinnati Children's Hospital; Pamela Trapane, MD, University of Florida Health Jacksonville; Nicole Ullrich, MD, PhD, Boston Children’s Hospital Revised Diagnostic Criteria for NF1, NF2, and Schwannomatosis Saturday, September 21, 8:05am – 8:30am Eric Legius, MD, PhD, University of Leuven, Belgium Saturday, September 21, 8:30am – 9:00am Scott Plotkin, MD, PhD, Massachusetts General Hospital When revising the diagnostic criteria we used the following guiding principles: represent best consensus among NF experts, address diagnostic (rather than clinical management) issues, be broadly representative of medical specialties and national groups, accessible to generalists as well as NF specialists, recognize advances in genetics over last 30 years without requiring genetic analysis for diagnosis, be acceptable in different countries and health care systems, now and in the coming years. We used the anonymous Delphi procedure to ask the opinion of many specialists in the field about possible changes to the criteria. We met with a large group of experts in New York in June 2018 to discuss the Delphi results and proposed possible changes in the criteria and the science behind it. We subsequently performed a second round of Delphi in October 2018 and presented preliminary revised diagnostic criteria at the Global Neurofibromatosis Meeting in Paris in November 2018. Experts were asked to provide feedback after the Paris meeting. We asked non-expert specialists from different specialties to provide feedback on the use and clarity of the criteria. Finally the representatives from patient organizations were asked to provide feedback. We will present the latest version of the revised criteria and explain the process how we got there. Full List of Authors: Gareth Evans1, Susan Huson2, Eric Legius3, Ludwine Messiaen4, Scott Plotkin5, Pierre Wolkenstein6 1St. Mary’s Hospital/University of Manchester, UK; 2Consultant Geneticist, UK; 3University of Leuven, Belgium; 4University of Alabama, Birmingham, USA; 5Massachusetts General Hospital, USA; 6Hôpital Henri-Mondor, France Health Supervision for Children with NF1: AAP/ACMG Guidelines Saturday, September 21, 9:00am – 9:30am David T. Miller, MD, PhD and Nicole Ullrich, MD, PhD, Boston Children's Hospital Clinical management guidelines for children with NF1 were revised and updated in 2019. These new American Academy of Pediatrics (AAP) and American College of Medical Genetics (ACMG) guidelines for the care of individuals with NF1 have an emphasis on decision-making for providers with regards to clinical management. Updates related to differential diagnosis and genetic testing is also addressed. Based on promising results of recent clinical trials, children with NF1 now have new treatment options available, some of which have become standard of care. This educational session will help attendees to identify changes they could make in their practice related to guidelines for ongoing management of children with neurofibromatosis type 1, as well as identifying children who may be appropriate for intervention with novel therapeutics. Strategic Vision for the Neurofibromatosis Clinic Network Saturday, September 21, 9:30am – 9:40am Heather Radtke, MS, CGC, Children’s Tumor Foundation The NF Clinic Network (NFCN) was established in 2007 and has expanded to over 55 affiliate clinics throughout the US. The NFCN has oversight from the Clinical Care Advisory Board with the goal of improving access to quality NF care throughout the country. 2019 NF Conference · San Francisco, CA · September 21-24, 2019 | 7 Quality Metrics Project Description and Discussion Saturday, September 21, 9:55am – 10:30am Justin Jordan, MD, MPH, Massachusetts General Hospital This presentation will provide background and evidence for the use of disease-specific guidelines to optimize