Abstract Book 2021 VIRTUAL NF CONFERENCE JUNE 14 - 16, 2021 KEEPING THE NF COMMUNITY CONNECTED CONTENTS Table of Contents INFORMATION Continuing Medical Education .................................................................................................5 SPEAKER ABSTRACTS Abstracts .............................................................................................................................16 POSTER ABSTRACTS NF1: Basic Science ..............................................................................................................57 NF1: Clinical Science ............................................................................................................87 NF2: Clinical Science ..........................................................................................................140 Schwannomatosis: Basic Science ......................................................................................142 Schwannomatosis: Clinical Science ....................................................................................144 2021 NF Virtual Conference · June 14-16, 2021 | 3 This Activity is Supported in Part by an Independent Education Grant from AstraZeneca 4 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research 2021 Virtual Neurofibromatosis (NF) Conference June 14-16, 2021 This accredited continuing education (CE) activity is jointly provided by Medical Learning Institute, Inc. and Children’s Tumor Foundation. Target Audience This accredited CE activity is directed towards oncologists, pediatric neuro-oncologists, pediatricians, genetic counselors, nurses/nurse practitioners, and researchers exploring tumor pathways. Educational Objectives After completing this accredited CE activity, the participant should be better able to: Clinical Research 1. Review gaps between theoretical and actual care delivery and how this can be addressed 2. Evaluate unmet needs and guideline-driven medical care for NF patients in European nations including France, England, Spain, Portugal, Norway, Sweden, and Italy, including the possibilities for an international approach to raising the level of care in these countries and eventually across additional nations 3. Outline how to approach planning for the transition from pediatric to adult care settings 4. Summarize barriers to prescribing novel medication for manifestations of neurofibromatosis and schwannomatosis to patients 5. Compare and contrast different approaches to complicated cases of NF in which multiple issues must be address in a coordinated way Basic Research 6. Review the latest scientific breakthroughs related to the biology of NF 7. Describe the major outstanding questions related to the molecular and cellular biology of NF 8. Summarize how basic science relates to the development of NF tumors and other NF-associated conditions Translational Research 9. Show how molecular advances have allowed targeted therapy for NF complications 10. Review how new potential treatments could translate to clinical effect Program Agenda Please see Agenda tab 2021 NF Virtual Conference · June 14-16, 2021 | 5 Physician Continuing Medical Education This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of Medical Learning Institute, Inc. and Children’s Tumor Foundation. Medical Learning Institute, Inc. is accredited by the ACCME to provide continuing medical education for physicians. Medical Learning Institute, Inc. (MLI) designates this live activity for a maximum of 16.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Commercial Support Statement This activity is supported by an independent educational grant from AstraZeneca. Physician Assistants PAs may claim a maximum of 16.25 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 Credit™ from organizations accredited by ACCME or a recognized state medical society. Nursing Continuing Professional Development Medical Learning Institute, Inc. is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation. Successful completion of this nursing continuing professional development activity will be awarded 15.25 contact hour(s). and 10.25 contact hour(s) in the area of pharmacology. Disclosures Disclosure & Conflict of Interest Policy Medical Learning Institute, Inc., is committed to providing high quality accredited continuing education to healthcare professionals, as individuals and teams, with a protected space to learn, teach, and engage in scientific discourse free from influence from ineligible companies that may have an incentive to insert commercial bias into education. To that end, MLI requires faculty, presenters, planners, staff, and other individuals who are in a position to control the content of this accredited CE activity to disclose all financial relationships they have had in the past 24 months with ineligible companies as defined by the ACCME, as related to the content of this accredited CE activity, regardless of the amount or their view of the relevance to the accredited education. All identified COI will be thoroughly vetted and mitigated according to MLI policy. These disclosures will be provided to learners prior to the start of the accredited CE activity. Faculty The following have no relevant financial relationship(s) with ineligible companies to disclose for this educational activity. Speaker: Allen, Taryn, PhD National Institutes of Health (NIH), US 6 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research Speaker: Askenazi, Naomi McGill University/Massachusetts General Hospital, US Speaker: Bouley, Stephanie, PhD Massachusetts General Hospital , US Speaker (Patient): Lilly Ann Brooks Speaker: Buono, Frank, PhD Yale University, US Speaker: Burns, Rebecca, MS MGH Institute of Health Professionals Planner: Castellanos, Elisabeth, PhD IDIBELL, Spain Speaker: Catasus, Nuria Germans Trias i Pujol Research Institute, Barcelona, ESP Speaker: Chinoy, Amish, MBBS Manchester University Hospitals NHS Foundation Trust, Manchester, UK Speaker: Da, Jennifer L.W., BA Massachusetts General Hospital Planner: De Raedt, Thomas, PhD Children’s Hospital of Philadelphia Speaker: Dhaenens, Britt, MD, Erasmus University, Netherlands Speaker (Patient): Alwyn Dias Planner: Dodd, Rebecca, PhD University of Iowa, US 2021 NF Virtual Conference · June 14-16, 2021 | 7 Speaker: Drouyer, Matthieu, PhD Children’s Medical Research Institute, The University of Sydney, Westmead, Australia Speaker: Gross, Andrea, MD National Cancer Institute, National Institutes of Health (NIH) US Planner/Speaker: Gutmann, David, MD, PhD, Washington University, St. Louis, US Speaker: Hardin, Haley University of Central Florida Speaker (Patient): Cole Harrell Speaker: Hou, Yang, PhD University of Kentucky Speaker: Kotch, Chelsea, MD Children’s Hospital of Philadelphia Speaker: Laraba, Liyam, PhD University of Plymouth, UK Planner: Martin, Staci, PhD National Institutes of Health (NIH), US Speaker: Martinelli, Maria, MSc University of Central Florida , US Speaker: Mazuelas, Helena, PhD Germans Trias i Pujol Research Institute, ESP Speaker: Merker, Vanessa, PhD Massachusetts General Hospital Planner: Morrison, Helen, PhD Friedrich Schiller University, Jena, Germany 8 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research Speaker: Ostrow, Kimberly, PhD Johns Hopkins University, US Speaker: Pacot, Laurence, PhD Student Hopital Cochin, Universite de Paris, France Speaker: Pan, Yuan, PhD Stanford University, US Planner: Papi, Laura, MD, University of Florence, Italy Speaker: Pardej, Sara, MS University of Wisconsin-Milwaukee, US Planner: Pasmant, Eric, PhD, Universite de Paris, France Planner: Payne, Jonathan, PsyD, Murdoch Children’s Hospital, Australia Speaker: Perrino, Melissa, MD Cincinnati Children’s Hospital Medical Center, US Speaker: Pundavela, Jay, PhD Cincinnati Children’s Hospital Medical Center, US Planner: Ruggieri, Martino, MD, PhD University of Catania, Italy Speaker: Rhodes, Steven, MD, PhD, Indiana University School of Medicine, US Speaker (Patient): William Riter Speaker: Rivera Polo, Barbara, PhD, IDIBELL, Spain Speaker: Sablina, Anna, PhD, KU Leuven, Belgium Speaker: 2021 NF Virtual Conference · June 14-16, 2021 | 9 Phadnis, Sheetal, MD, University of Alabama at Birmingham, US Speaker: Silber, Sara Children’s National Hospital, Franklin and Marshall College, US Planner/Speaker: Smith, Miriam, PhD University of Manchester, UK Speaker: Struemph, Kari, PhD University of Kansas School of Medicine, US Speaker: Sundby, R. Taylor, MD National Cancer Institute, National Institutes of Health (NIH), US Planner/Moderator: Trapane, Pamela, MD University of Florida School of Medicine - Jacksonville Planner/Moderator: Ullrich, Nicole, MD, PhD Boston Children’s Hospital, US Speaker: van de Ketterij, Edwin MSc European Research Infrastructure for Translational Research (EATRIS) Speaker: Vasudevan, Harish, MD, PhD University of California San Francisco, US Speaker: Williams, Kyle, PhD University of Minnesota, US Speaker: Xu, Lei, MD, PhD Massachusetts General Hospital, US The following have relevant financial relationship(s) with ineligible companies to disclose for this educational activity. Speaker: 10 | Children’s Tumor Foundation