DGCR8 Microprocessor Defect Characterizes Familial Multinodular Goiter with Schwannomatosis
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Revision of Diagnostic Criteria for Neurofibromatosis
Revision of Diagnostic Criteria for Neurofibromatosis Gareth Evans, MD, St. Mary’s Hospital/University of Manchester, UK Susan Huson, MD, Consultant Geneticist, UK Eric Legius, MD, PhD, University of Leuven, Belgium Ludwine Messiaen, PhD, University of AlaBama, Birmingham, USA Scott Plotkin, MD, PhD, Massachusetts General Hospital, USA Pierre Wolkenstein, MD, PhD, Hôpital Henri-Mondor, France 2019 NF Conference San Francisco, CA September 21, 2019 Revision of the Diagnostic Criteria of the Neurofibromatoses 92 medical specialists 20 countries 5 continents We want your feedback! Send email to: [email protected] Participants in revision process: Leadership team Clinical Epidemiology Health Services Research: Ophthalmology: • Gareth Evans • Nilton Rezende • Vanessa Merker • Robert Avery • Sue Huson • Catherine Cassiman • Eric Legius Clinical Genetics: Internal Medicine: Pathology: • Ludwine Messiaen • Dorothy Halliday • Luiz Oswaldo Carneiro • Karin Cunha • Scott Plotkin • Maurizio Clementi Rodrigues • Anat Stemmer-Rachamimov • Pierre Wolkenstein • Arvid Heiberg • Patrice Pancza • Joanne Ngeow Scientists: Pediatrics: • Shay Ben-Schachar • Miriam Smith • Outside Experts: • Bruce Korf • Marco Giovannini Rianne Oostenbrink • • Monique Anten • Mimi Berman • Eduard Serra Robert Listernick • Jaan Toelen • Betty Schorry • Juha Peltonen Pediatric Hematology and • Arthur Aylsworth • Gareth Evans Oncology: • Meredith Wilson • Ignacio Blanco Molecular Genetics: • Michael Fisher • Helen Hanson • Dusica Babovic-Vuksanovic •Laura Papi • Christopher -
2018 Abstract Book
CONTENTS Table of Contents INFORMATION Continuing Medical Education .................................................................................................5 Guidelines for Speakers ..........................................................................................................6 Guidelines for Poster Presentations .........................................................................................8 SPEAKER ABSTRACTS Abstracts ...............................................................................................................................9 POSTER ABSTRACTS Basic Research (Location – Room 101) ...............................................................................63 Clinical (Location – Room 8) ..............................................................................................141 2018 Joint Global Neurofibromatosis Conference · Paris, France · November 2-6, 2018 | 3 4 | 2018 Joint Global Neurofibromatosis Conference · Paris, France · November 2-6, 2018 EACCME European Accreditation Council for Continuing Medical Education 2018 Joint Global Neurofibromatosis Conference Paris, France, 02/11/2018–06/11/2018 has been accredited by the European Accreditation Council for Continuing Medical Education (EACCME®) for a maximum of 27 European CME credits (ECMEC®s). Each medical specialist should claim only those credits that he/she actually spent in the educational activity. The EACCME® is an institution of the European Union of Medical Specialists (UEMS), www.uems.net. Through an agreement between -
Schwannomatosis: Tumors That Affect the Nervous System
In partnership with Primary Children’s Hospital Schwannomatosis: Tumors that affect the nervous system Schwannomatosis (sh-WAHN-no-muh-TOH-siss) is a genetic What are the signs disorder that causes noncancerous (benign) tumors, of schwannomatosis? called schwannomas, to grow on the peripheral and Signs of schwannomatosis include: spinal nerves. These tumors can cause pain that are • Chronic pain anywhere in the body hard to control. (caused by schwannomas pushing on the nerves) One in 40,000 people worldwide develop • Numbness or tingling schwannomatosis, a rare form of neurofibromatosis (new-roh-FIBE-row-muh-TOH-siss) each year. • Headaches Neurofibromatosis is a group of genetic disorders • Vision changes that affect the nervous system. • Weakness (including facial weakness) What causes schwannomatosis? • Problems with bowel movements Because schwannomatosis is a genetic disorder, your child either: • Trouble urinating • Inherited an abnormal gene from a parent, or Your child may have mild or severe pain, and they • Inherited a gene mutation may not have other symptoms of schwannomatosis until later. This makes it hard to diagnose Many children who have schwannomatosis are the the disorder. first in their family to have symptoms of the disorder. However, these children can then pass How is schwannomatosis diagnosed? schwannomatosis to their own children. Your child’s healthcare provider will look at your child and ask questions about their pain and symptoms. Sometimes the provider may be able to feel a tumor during a physical exam, -
Identification of Transcriptional Mechanisms Downstream of Nf1 Gene Defeciency in Malignant Peripheral Nerve Sheath Tumors Daochun Sun Wayne State University
Wayne State University DigitalCommons@WayneState Wayne State University Dissertations 1-1-2012 Identification of transcriptional mechanisms downstream of nf1 gene defeciency in malignant peripheral nerve sheath tumors Daochun Sun Wayne State University, Follow this and additional works at: http://digitalcommons.wayne.edu/oa_dissertations Recommended Citation Sun, Daochun, "Identification of transcriptional mechanisms downstream of nf1 gene defeciency in malignant peripheral nerve sheath tumors" (2012). Wayne State University Dissertations. Paper 558. This Open Access Dissertation is brought to you for free and open access by DigitalCommons@WayneState. It has been accepted for inclusion in Wayne State University Dissertations by an authorized administrator of DigitalCommons@WayneState. IDENTIFICATION OF TRANSCRIPTIONAL MECHANISMS DOWNSTREAM OF NF1 GENE DEFECIENCY IN MALIGNANT PERIPHERAL NERVE SHEATH TUMORS by DAOCHUN SUN DISSERTATION Submitted to the Graduate School of Wayne State University, Detroit, Michigan in partial fulfillment of the requirements for the degree of DOCTOR OF PHILOSOPHY 2012 MAJOR: MOLECULAR BIOLOGY AND GENETICS Approved by: _______________________________________ Advisor Date _______________________________________ _______________________________________ _______________________________________ © COPYRIGHT BY DAOCHUN SUN 2012 All Rights Reserved DEDICATION This work is dedicated to my parents and my wife Ze Zheng for their continuous support and understanding during the years of my education. I could not achieve my goal without them. ii ACKNOWLEDGMENTS I would like to express tremendous appreciation to my mentor, Dr. Michael Tainsky. His guidance and encouragement throughout this project made this dissertation come true. I would also like to thank my committee members, Dr. Raymond Mattingly and Dr. John Reiners Jr. for their sustained attention to this project during the monthly NF1 group meetings and committee meetings, Dr. -
S41467-021-24841-Y.Pdf
ARTICLE https://doi.org/10.1038/s41467-021-24841-y OPEN Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer Athea Vichas1,10, Amanda K. Riley 1,2,10, Naomi T. Nkinsi1, Shriya Kamlapurkar1, Phoebe C. R. Parrish 1,3, April Lo1,3, Fujiko Duke4, Jennifer Chen4, Iris Fung4, Jacqueline Watson4, Matthew Rees 4, Austin M. Gabel 3,5,6,7, James D. Thomas 6,7, Robert K. Bradley 3,6,7, John K. Lee1, Emily M. Hatch 1,7, ✉ Marina K. Baine8, Natasha Rekhtman8, Marc Ladanyi8, Federica Piccioni4,9 & Alice H. Berger 1,3 1234567890():,; CRISPR-based cancer dependency maps are accelerating advances in cancer precision medicine, but adequate functional maps are limited to the most common oncogenes. To identify opportunities for therapeutic intervention in other rarer subsets of cancer, we investigate the oncogene-specific dependencies conferred by the lung cancer oncogene, RIT1. Here, genome-wide CRISPR screening in KRAS, EGFR, and RIT1-mutant isogenic lung cancer cells identifies shared and unique vulnerabilities of each oncogene. Combining this genetic data with small-molecule sensitivity profiling, we identify a unique vulnerability of RIT1- mutant cells to loss of spindle assembly checkpoint regulators. Oncogenic RIT1M90I weakens the spindle assembly checkpoint and perturbs mitotic timing, resulting in sensitivity to Aurora A inhibition. In addition, we observe synergy between mutant RIT1 and activation of YAP1 in multiple models and frequent nuclear overexpression of YAP1 in human primary RIT1-mutant lung tumors. These results provide a genome-wide atlas of oncogenic RIT1 functional inter- actions and identify components of the RAS pathway, spindle assembly checkpoint, and Hippo/YAP1 network as candidate therapeutic targets in RIT1-mutant lung cancer. -
New Frontiers
PROGRAM & BOOK OF ABSTRACTS JUNE 13-16, 2009 • PORTLAND, OREGON New Frontiers Children’s Tumor FoundaTION 95 PINE STREET, 16TH FLOOR, NEW YORK, NY 10005 | WWW.CTF.ORG | 212.344.6633 Dear NF Conference Attendees: On behalf of the Children’s Tumor Foundation, welcome to the 2009 NF Conference: New Frontiers. The theme references the meeting content and also Portland itself, historically a gateway port of the Pacific North West. The urban setting offers a ‘new frontier’ in comparison to the mountain and beach locales of past NF Conferences, but one which we feel you will enjoy. Portland is an easy-going city offering history, beauty and relaxation – features encapsulated in our host hotel The Nines, itself a part of the tapestry of Portland history, renovated from the former landmark Meier & Frank department store. The last year has seen major NF research advances. The dovetailing of discovery, translation and the clinic can be seen throughout the meeting. We are firmly in the age of NF clinical trials and proud that the Children’s Tumor Foundation is part of this advance: in 2009 we funded our first two pilot Clinical Trial Awards. We continue to build a pipeline of candidate NF drug therapies through the Foundation’s multi-center NF Preclinical Consortium and the seed grant Drug Discovery Initiative (DDI) program. Through these translational initiatives we are cultivating NF collaborations with the biotechnology and pharmaceutical sector, a critical factor in moving NF research forward to the clinic. At the same time, basic research advances continue, such as in the unraveling of schwannomatosis. -
Newly Diagnosed with Schwannomatosis: a Guide to the Basics
NEWLY DIAGNOSED WITH SCHWANNOMATOSIS: A GUIDE TO THE BASICS ctf.org 1-800-323-7938 CONTENTS Newly Diagnosed? You Are Not Alone 2 The Children’s Tumor Foundation 4 NF Basics 5 Understanding Schwannomatosis Symptoms 6 Inheritance and Genetics of Schwannomatosis 7 How Is the Diagnosis Made? 10 Medical Management of Schwannomatosis 11 Sharing the News 13 Connecting with Other Patients and Families 15 Schwannomatosis Research 16 Insurance Coverage for Schwannomatosis 17 Resources 18 NEWLY DIAGNOSED? You Are Not Alone We at the Children’s Tumor Foundation (CTF) understand that many questions and concerns arise after receiving a diagnosis of schwannomatosis, a form of neurofibromatosis, or NF. There’s a lot of information to absorb at one time, and you probably want to know how your diagnosis will impact your life. It can be helpful to remember that different people may deal with health-related news in different ways. While some prefer to digest small bits of information at a time, others like to get as much information as possible right away. Both of these approaches are perfectly normal. It’s important to know that the symptoms of schwannomatosis vary widely, and most people with the condition continue to lead full and active lives under the care of an experienced specialist who can manage their symptoms and watch for potential complications. This brochure is designed to give you essential information about schwannomatosis as well as provide key advice and resources so that you can take care of your health and continue to get the most out of life. 2 As you begin your journey of learning more about schwannomatosis, we also want you to know that you are not alone. -
C-Fiber Loss As a Possible Cause of Neuropathic Pain in Schwannomatosis
International Journal of Molecular Sciences Article C-Fiber Loss as a Possible Cause of Neuropathic Pain in Schwannomatosis 1, , 2,3 4 1 Said C. Farschtschi * y , Tina Mainka , Markus Glatzel , Anna-Lena Hannekum , Michael Hauck 1,5, Mathias Gelderblom 1, Christian Hagel 4 , Reinhard E. Friedrich 6, Martin U. Schuhmann 7, Alexander Schulz 8,9, Helen Morrison 8, Hildegard Kehrer-Sawatzki 10, 1 1 11 11,12, Jan Luhmann , Christian Gerloff , Martin Bendszus , Philipp Bäumer z and 1, Victor-Felix Mautner z 1 Department of Neurology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; [email protected] (A.-L.H.); [email protected] (M.H.); [email protected] (M.G.); [email protected] (J.L.); gerloff@uke.de (C.G.); [email protected] (V.-F.M.) 2 Department of Neurology, Charité University Medicine, 10117 Berlin, Germany; [email protected] 3 Berlin Institute of Health, 10178 Berlin, Germany 4 Department of Neuropathology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; [email protected] (M.G.); [email protected] (C.H.) 5 Department of Neurophysiology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany 6 Department of Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; [email protected] 7 Department of Neurosurgery, University Medical Center Tübingen, 72076 Tübingen, Germany; [email protected] 8 Leibniz Institute on Aging, Fritz Lipmann Institute, 07745 Jena, Germany; [email protected] (A.S.); helen.morrison@leibniz-fli.de (H.M.) 9 MVZ Human Genetics, 99084 Erfurt, Germany 10 Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany; [email protected] 11 Department of Neuroradiology, University Medical Center Heidelberg, 69120 Heidelberg, Germany; [email protected] (M.B.); [email protected] (P.B.) 12 Department of Radiology, German Cancer Research Center, 69120 Heidelberg, Germany * Correspondence: [email protected]; Tel.: +49(0)407410-53869 Martinistr. -
Genetic Testing in Inherited Endocrine Disorders
Eggermann et al. Orphanet Journal of Rare Diseases (2020) 15:144 https://doi.org/10.1186/s13023-020-01420-w REVIEW Open Access Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) Thomas Eggermann1* , Miriam Elbracht1, Ingo Kurth1, Anders Juul2,3, Trine Holm Johannsen2,3, Irène Netchine4, George Mastorakos5, Gudmundur Johannsson6, Thomas J. Musholt7, Martin Zenker8, Dirk Prawitt9, Alberto M. Pereira10, Olaf Hiort11 and on behalf of the European Reference Network on Rare Endocrine Conditions (ENDO-ERN Abstract Background: With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disorders has massively expanded. However, the rapid implementation of these new molecular tools in the diagnostic settings makes the interpretation of diagnostic data increasingly complex. Main body: This joint paper of the ENDO-ERN members aims to overview chances, challenges, limitations and relevance of comprehensive genetic diagnostic testing in rare endocrine conditions in order to achieve an early molecular diagnosis. This early diagnosis of a genetically based endocrine disorder contributes to a precise management and helps the patients and their families in their self-determined planning of life. Furthermore, the identification of a causative (epi)genetic alteration allows an accurate prognosis of recurrence risks for family planning as the basis of genetic counselling. Asymptomatic carriers of pathogenic variants can be identified, and prenatal testing might be offered, where appropriate. Conclusions: The decision on genetic testing in the diagnostic workup of endocrine disorders should be based on their appropriateness to reliably detect the disease-causing and –modifying mutation, their informational value, and cost-effectiveness. -
2016 Nf Conference
2016 NF CONFERENCE “YOU’VE GOT THE POWER!” June 18-21, 2016 JW Marriott Austin, TX NF CONFERENCE 2 | Children’s Tumor Foundation · Ending Neurofibromatosis Through Research Dear NF Conference Attendees: Welcome to Austin—the capital of Texas, the live music capital of the world, and for these next three and a half days, the capital of NF research! We are thrilled to be with you all in such a thriving city, an ideal location for the greatest minds in NF research to congregate, collaborate, and make strides towards ending NF. This year’s 2016 NF Conference, brief neighbors of the NF Patient Forum, is based on the larger premise that you, along with the incredibly brave NF patients and their families, have the power to end NF. There are three core principles of the NF Conference that drive this premise: creating new networks and friendships for attendees; bringing patients, researchers and clinicians face- to-face, and ensuring that we at the Foundation continue to use this event as a platform to stimulate collaborative NF research, and to showcase our incredible progress. Moreover, at this Conference, there will be the first open data release in NF. It is only as a team that we can succeed! It is you, our friends and colleagues, and your dedication to NF research, who have made this progress and promise a reality. You represent the expansive, and often unpredictable spectrum that encompasses science, and within the singularly difficult realm of NF research. It is you who have made all of the accomplishments in NF since last year’s Conference possible, and it is you who will foster further accomplishments this year and beyond. -
The Ezrin Metastatic Phenotype Is Associated with the Initiation of Protein Translation
Volume 14 Number 4 April 2012 pp. 297–310 297 www.neoplasia.com The Ezrin Metastatic Phenotype Is Joseph W. Briggs*, Ling Ren*, Rachel Nguyen*, Kristi Chakrabarti*, Jessica Cassavaugh*, Associated with the Initiation of Said Rahim†, Gulay Bulut†, Ming Zhou‡, 1 Timothy D. Veenstra‡, Qingrong Chen§, Jun S. Wei§, Protein Translation Javed Khan§, Aykut Uren† and Chand Khanna* *Tumor and Metastasis Biology Section, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA; †Lombardi Cancer Center, Georgetown University, Washington, DC, USA; ‡Laboratory of Proteomics and Analytical Technologies, Advanced Technology Program, SAIC – Frederick, Inc, National Cancer Institute - Frederick, Frederick, MD, USA; §Oncogenomics Section, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA Abstract We previously associated the cytoskeleton linker protein, Ezrin, with the metastatic phenotype of pediatric sarcomas, including osteosarcoma and rhabdomyosarcoma. These studies have suggested that Ezrin contributes to the survival of cancer cells after their arrival at secondary metastatic locations. To better understand this role in metastasis, we undertook two noncandidate analyses of Ezrin function including a microarray subtraction of high- and low-Ezrin- expressing cells and a proteomic approach to identify proteins that bound the N-terminus of Ezrin in tumor lysates. Functional analyses of these data led to a novel and unifying hypothesis that Ezrin contributes to the efficiency of metastasis through regulation of protein translation. In support of this hypothesis, we found Ezrin to be part of the ribonucleoprotein complex to facilitate the expression of complex messenger RNA in cells and to bind with poly A binding protein 1 (PABP1; PABPC1). -
Current Understanding of Neurofibromatosis Type 1, 2, And
International Journal of Molecular Sciences Review Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis Ryota Tamura Department of Neurosurgery, Kawasaki Municipal Hospital, Shinkawadori, Kanagawa, Kawasaki-ku 210-0013, Japan; [email protected] Abstract: Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain, spinal cord, organs, skin, and bones. There are three types of NF: NF1 accounting for 96% of all cases, NF2 in 3%, and schwannomatosis (SWN) in <1%. The NF1 gene is located on chromosome 17q11.2, which encodes for a tumor suppressor protein, neurofibromin, that functions as a negative regulator of Ras/MAPK and PI3K/mTOR signaling pathways. The NF2 gene is identified on chromosome 22q12, which encodes for merlin, a tumor suppressor protein related to ezrin-radixin-moesin that modulates the activity of PI3K/AKT, Raf/MEK/ERK, and mTOR signaling pathways. In contrast, molecular insights on the different forms of SWN remain unclear. Inactivating mutations in the tumor suppressor genes SMARCB1 and LZTR1 are considered responsible for a majority of cases. Recently, treatment strategies to target specific genetic or molecular events involved in their tumorigenesis are developed. This study discusses molecular pathways and related targeted therapies for NF1, NF2, and SWN and reviews recent clinical trials which involve NF patients. Keywords: neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; molecular tar- geted therapy; clinical trial Citation: Tamura, R. Current Understanding of Neurofibromatosis Int. Type 1, 2, and Schwannomatosis. 1. Introduction J. Mol. Sci. 2021, 22, 5850. https:// doi.org/10.3390/ijms22115850 Neurofibromatosis (NF) is a genetic disorder that causes multiple tumors on nerve tissues, including brain, spinal cord, and peripheral nerves [1–3].