Please use this identifier to cite or link to this item:
Title: 2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis
Author: Fisher, Michael J.
Belzberg, Allan J.
Blank, Peter de
Raedt, Thomas De
Elefteriou, Florent
Ferner, Rosalie E.
Giovannini, Marco
Harris, Gordon J.
Kalamarides, Michel
Karajannis, Matthias A.
Kim, Aerang
Lázaro García, Conxi
Le, Lu Q.
Li, Wei
Listernick, Robert
Martin, Staci
Morrison, Helen
Pasmant, Eric
Ratner, Nancy
Schorry, Elisabeth
Ullrich, Nicole J.
Viskochil, David
Weiss, Brian
Widemann, Brigitte C.
Zhu, Yuan
Bakker, Annette
Serra, Eduard
Keywords: Neurofibromatosi
Oncologia pediàtrica
Tumors in children
Issue Date: 1-May-2018
Publisher: Wiley
Abstract: Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism. The transformation from plexiform neurofibroma (PNF) to malignant peripheral nerve sheath tumor (MPNST) is being clarified, along with new management and treatments for benign and premalignant tumors. Promising new cellular and in vivo models for understanding the musculoskeletal abnormalities in NF1, the development of NF2 or SWN associated schwannomas, and clarifying the cells that give rise to NF1-associated optic pathway glioma were presented. The interaction of neurofibromin and SPRED1 was described comprehensively, providing functional insight that will help in the interpretation of pathogenicity of certain missense variants identified in NF1 and Legius syndrome patients. Novel promising imaging techniques are being developed, as well as new integrative and holistic management models for patients that take into account psychological, social, and biological factors. Importantly, new therapeutic approaches for schwannomas, meningiomas, ependymomas, PNF, and MPNST are being pursued. This report highlights the major advances that were presented at the 2016 CTF NF conference.
Note: Versió postprint del document publicat a:
It is part of: American Journal of Medical Genetics Part A, 2018, vol. 176, num. 5, p. 1258-1269
Related resource:
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Files in This Item:
File Description SizeFormat 
FisherMJ.pdf98 kBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.