CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppres...

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Bibliographic Details
Published in:	American journal of medical genetics. Part A Vol. 164A; no. 3; pp. 563 - 578
Main Authors:	Widemann, Brigitte C., Acosta, Maria T., Ammoun, Sylvia, Belzberg, Allan J., Bernards, Andre, Blakeley, Jaishri, Bretscher, Antony, Cichowski, Karen, Clapp, D. Wade, Dombi, Eva, Evans, Gareth D., Ferner, Rosalie, Fernandez-Valle, Cristina, Fisher, Michael J., Giovannini, Marco, Gutmann, David H., Hanemann, C. Oliver, Hennigan, Robert, Huson, Susan, Ingram, David, Kissil, Joe, Korf, Bruce R., Legius, Eric, Packer, Roger J., McClatchey, Andrea I, McCormick, Frank, North, Kathryn, Pehrsson, Minja, Plotkin, Scott R., Ramesh, Vijaya, Ratner, Nancy, Schirmer, Susann, Sherman, Larry, Schorry, Elizabeth, Stevenson, David, Stewart, Douglas R., Ullrich, Nicole, Bakker, Annette C., Morrison, Helen
Format:	Journal Article Conference Proceeding
Language:	English
Published:	United States Blackwell Publishing Ltd 01-03-2014 Wiley Subscription Services, Inc
Subjects:	Humans merlin neurofibromin Neurilemmoma - etiology Neurilemmoma - genetics Neurilemmoma - therapy Neurofibromatoses - etiology Neurofibromatoses - genetics Neurofibromatoses - therapy Neurofibromatosis 1 - etiology Neurofibromatosis 1 - genetics Neurofibromatosis 1 - therapy Neurofibromatosis 2 - etiology Neurofibromatosis 2 - genetics Neurofibromatosis 2 - therapy neurofibromatosis type 1 neurofibromatosis type 2 NF1 NF2 preclinical models schwannomatosis Skin Neoplasms - etiology Skin Neoplasms - genetics Skin Neoplasms - therapy SMARCB1 tumor suppressor merlin neurofibromin preclinical models SMARCB1 NF1 neurofibromatosis type 1 neurofibromatosis type 2 schwannomatosis tumor suppressor NF2
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Summary:	The neurofibromatoses (NF) are autosomal dominant genetic disorders that encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect more people worldwide than Duchenne muscular dystrophy and Huntington's disease combined. NF1 and NF2 are caused by mutations of known tumor suppressor genes (NF1 and NF2, respectively). For schwannomatosis, although mutations in SMARCB1 were identified in a subpopulation of schwannomatosis patients, additional causative gene mutations are still to be discovered. Individuals with NF1 may demonstrate manifestations in multiple organ systems, including tumors of the nervous system, learning disabilities, and physical disfigurement. NF2 ultimately can cause deafness, cranial nerve deficits, and additional severe morbidities caused by tumors of the nervous system. Unmanageable pain is a key finding in patients with schwannomatosis. Although today there is no marketed treatment for NF‐related tumors, a significant number of clinical trials have become available. In addition, significant preclinical efforts have led to a more rational selection of potential drug candidates for NF trials. An important element in fueling this progress is the sharing of knowledge. For over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share novel findings, ideas, and build collaborations. The 2012 NF Conference held in New Orleans hosted over 350 NF researchers and clinicians. This article provides a synthesis of the highlights presented at the conference and as such, is a “state‐of‐the‐field” for NF research in 2012. © 2014 Wiley Periodicals, Inc.
Bibliography:	National Institutes of Health Grant Award - No. 1R13NS070505-01 istex:9A11B8F5938761617DB255F8498C64E1128A6349 National Cancer Institute ark:/67375/WNG-DDLSLQJD-S ArticleID:AJMGA36312 Center for Cancer Research ObjectType-Article-2 content type line 25 ObjectType-Conference-1 SourceType-Conference Papers & Proceedings-1 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.36312