2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

Michael J. Fisher, Allan J. Belzberg, Peter de Blank, Thomas De Raedt, Florent Elefteriou, Rosalie E. Ferner, Marco Giovannini, Gordon J. Harris, Michel Kalamarides, Matthias A. Karajannis, Ae Rang Kim, Conxi Lázaro, Lu Q. Le, Wei Li, Robert Listernick, Staci Martin, Helen Morrison, Eric Pasmant, Nancy Ratner, Elisabeth Schorry & 7 others Nicole J. Ullrich, David Viskochil, Brian Weiss, Brigitte C. Widemann, Yuan Zhu, Annette Bakker, Eduard Serra

Research output: Contribution to journalArticle

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.

LanguageEnglish (US)
Pages1258-1269
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number5
DOIs
StatePublished - May 1 2018

Fingerprint

Neurofibromatosis 2
Neurofibromatosis 1
Neurofibromatoses
Neurilemmoma
Plexiform Neurofibroma
Neoplasms
Musculoskeletal Abnormalities
Neurofibromin 1
Optic Nerve Glioma
Ependymoma
Mosaicism
Genetic Heterogeneity
Biological Factors
Meningioma
Virulence
Schwannomatosis
Research Personnel
Psychology
Therapeutics
Research

Keywords

  • autism
  • conference
  • ependymoma
  • glioma
  • malignant peripheral nerve sheath tumor
  • meningioma
  • merlin
  • neurofibroma
  • neurofibromatosis
  • neurofibromin
  • pseudoarthrosis
  • schwannoma
  • schwannomatosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Fisher, M. J., Belzberg, A. J., de Blank, P., De Raedt, T., Elefteriou, F., Ferner, R. E., ... Serra, E. (2018). 2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. American Journal of Medical Genetics, Part A, 176(5), 1258-1269. https://doi.org/10.1002/ajmg.a.38675

2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. / Fisher, Michael J.; Belzberg, Allan J.; de Blank, Peter; De Raedt, Thomas; Elefteriou, Florent; Ferner, Rosalie E.; Giovannini, Marco; Harris, Gordon J.; Kalamarides, Michel; Karajannis, Matthias A.; Kim, Ae Rang; Lázaro, 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.

In: American Journal of Medical Genetics, Part A, Vol. 176, No. 5, 01.05.2018, p. 1258-1269.

Research output: Contribution to journalArticle

Fisher, MJ, Belzberg, AJ, de Blank, P, De Raedt, T, Elefteriou, F, Ferner, RE, Giovannini, M, Harris, GJ, Kalamarides, M, Karajannis, MA, Kim, AR, Lázaro, C, Le, LQ, Li, W, Listernick, R, Martin, S, Morrison, H, Pasmant, E, Ratner, N, Schorry, E, Ullrich, NJ, Viskochil, D, Weiss, B, Widemann, BC, Zhu, Y, Bakker, A & Serra, E 2018, '2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis' American Journal of Medical Genetics, Part A, vol. 176, no. 5, pp. 1258-1269. https://doi.org/10.1002/ajmg.a.38675
Fisher, Michael J. ; Belzberg, Allan J. ; de Blank, Peter ; De Raedt, Thomas ; Elefteriou, Florent ; Ferner, Rosalie E. ; Giovannini, Marco ; Harris, Gordon J. ; Kalamarides, Michel ; Karajannis, Matthias A. ; Kim, Ae Rang ; Lázaro, 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. / 2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis. In: American Journal of Medical Genetics, Part A. 2018 ; Vol. 176, No. 5. pp. 1258-1269.
@article{645ae16bb01e443b8485c9f8e6a4fd70,
title = "2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis",
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.",
keywords = "autism, conference, ependymoma, glioma, malignant peripheral nerve sheath tumor, meningioma, merlin, neurofibroma, neurofibromatosis, neurofibromin, pseudoarthrosis, schwannoma, schwannomatosis",
author = "Fisher, {Michael J.} and Belzberg, {Allan J.} and {de Blank}, Peter and {De Raedt}, Thomas and Florent Elefteriou and Ferner, {Rosalie E.} and Marco Giovannini and Harris, {Gordon J.} and Michel Kalamarides and Karajannis, {Matthias A.} and Kim, {Ae Rang} and Conxi L{\'a}zaro and Le, {Lu Q.} and Wei Li and Robert Listernick and Staci Martin and Helen Morrison and Eric Pasmant and Nancy Ratner and Elisabeth Schorry and Ullrich, {Nicole J.} and David Viskochil and Brian Weiss and Widemann, {Brigitte C.} and Yuan Zhu and Annette Bakker and Eduard Serra",
year = "2018",
month = "5",
day = "1",
doi = "10.1002/ajmg.a.38675",
language = "English (US)",
volume = "176",
pages = "1258--1269",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
number = "5",

}

TY - JOUR

T1 - 2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

AU - Fisher, Michael J.

AU - Belzberg, Allan J.

AU - de Blank, Peter

AU - De Raedt, Thomas

AU - Elefteriou, Florent

AU - Ferner, Rosalie E.

AU - Giovannini, Marco

AU - Harris, Gordon J.

AU - Kalamarides, Michel

AU - Karajannis, Matthias A.

AU - Kim, Ae Rang

AU - Lázaro, Conxi

AU - Le, Lu Q.

AU - Li, Wei

AU - Listernick, Robert

AU - Martin, Staci

AU - Morrison, Helen

AU - Pasmant, Eric

AU - Ratner, Nancy

AU - Schorry, Elisabeth

AU - Ullrich, Nicole J.

AU - Viskochil, David

AU - Weiss, Brian

AU - Widemann, Brigitte C.

AU - Zhu, Yuan

AU - Bakker, Annette

AU - Serra, Eduard

PY - 2018/5/1

Y1 - 2018/5/1

N2 - 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.

AB - 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.

KW - autism

KW - conference

KW - ependymoma

KW - glioma

KW - malignant peripheral nerve sheath tumor

KW - meningioma

KW - merlin

KW - neurofibroma

KW - neurofibromatosis

KW - neurofibromin

KW - pseudoarthrosis

KW - schwannoma

KW - schwannomatosis

UR - http://www.scopus.com/inward/record.url?scp=85045838878&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85045838878&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.38675

DO - 10.1002/ajmg.a.38675

M3 - Article

VL - 176

SP - 1258

EP - 1269

JO - American Journal of Medical Genetics, Part A

T2 - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 5

ER -