From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.


Journal

American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741

Informations de publication

Date de publication:
06 2019
Historique:
received: 30 12 2018
accepted: 09 02 2019
pubmed: 26 3 2019
medline: 11 6 2020
entrez: 26 3 2019
Statut: ppublish

Résumé

The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous system tumors. Each disease is associated with a distinct genetic mutation and with a different pathogenesis and clinical course. Neurofibromatosis 1 (NF1) is common and epitomized by multiple neurofibromas with widespread complications. NF2 and schwannomatosis are rare diseases that are typified by multiple schwannomas that are particularly painful in people with schwannomatosis. Since 1985, the Children's Tumor Foundation (formerly the National Neurofibromatosis Foundation) has hosted an international Neurofibromatosis Conference, bringing together international participants who are focused on NF research and clinical care. The 2017 Conference, held in Washington, DC, was among the largest gatherings of NF researchers to date and included presentations from clinicians and basic scientists, highlighting new data regarding the molecular and cellular mechanisms underlying each of these diseases as well as results from clinical studies and clinical trials. This article summarizes the findings presented at the meeting and represents the current state-of-the art for NF research.

Identifiants

pubmed: 30908866
doi: 10.1002/ajmg.a.61112
pmc: PMC6488427
mid: NIHMS1015946
doi:

Types de publication

Congress Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

1098-1106

Subventions

Organisme : NCI NIH HHS
ID : P50 CA211015
Pays : United States
Organisme : NIH HHS
ID : P51 OD011092
Pays : United States
Organisme : NINDS NIH HHS
ID : R13 NS103421
Pays : United States
Organisme : NCI NIH HHS
ID : U54 CA196519
Pays : United States

Informations de copyright

© 2019 Wiley Periodicals, Inc.

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Auteurs

Rosalie E Ferner (RE)

Department of Neurology, Neurofibromatosis Centre, Guy's and St. Thomas' NHS Foundation Trust, and King's College London, London, UK.

Annette Bakker (A)

Children's Tumor Foundation, New York, New York.

Ype Elgersma (Y)

Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.

D Gareth R Evans (DGR)

Centre for Genomic Medicine, St. Mary's Hospital, Manchester, UK.
Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.

Marco Giovannini (M)

Department of Head and Neck Surgery, University of California, Los Angeles.

Eric Legius (E)

Department of Human Genetics, University Hospital Leuven, Leuven, Herestraat, Belgium.

Alison Lloyd (A)

Laboratory for Molecular Cell Biology, University College London, London, UK.

Ludwine M Messiaen (LM)

Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, Alabama.

Scott Plotkin (S)

Department of Neurology and Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

Karlyne M Reilly (KM)

Rare Tumors Initiative, Center for Cancer Research, National Institutes of Health, Bethesda, Maryland.

Aaron Schindeler (A)

Orthopaedic Research & Biotechnology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.

Miriam J Smith (MJ)

Centre for Genomic Medicine, St. Mary's Hospital, Manchester, UK.
Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.

Nicole J Ullrich (NJ)

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Brigitte Widemann (B)

Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.

Larry S Sherman (LS)

Division of Neuroscience, Oregon National Primate Research Center, and Department of Cell, Developmental and Cancer Biology, Oregon Health & Science University, Portland, Oregon.

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Classifications MeSH