Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Plexiform neurofibromas in NF1: toward biologic-based therapy.

R J Packer1, D H Gutmann, A Rubenstein

  • 1Department of Neurology, Children's National Medical Center, George Washington University, Washington, DC 20010, USA. rpacker@cnmc.org

Neurology
|June 4, 2002
PubMed
Summary

Neurofibromatosis type 1 (NF1) causes plexiform neurofibromas. Understanding NF1 gene function and tumor biology is key to developing targeted therapies beyond surgery.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.

American journal of medical genetics. Part A·2025
Same author

Quantitative blood loss after vaginal delivery: a retrospective analysis of 104 079 measurements at 41 institutions.

International journal of obstetric anesthesia·2022
Same author

ADC Histogram Analysis of Pediatric Low-Grade Glioma Treated with Selumetinib: A Report from the Pediatric Brain Tumor Consortium.

AJNR. American journal of neuroradiology·2022
Same author

Heterogeneous mass distribution of the rubble-pile asteroid (101955) Bennu.

Science advances·2020
Same author

The dynamic geophysical environment of (101955) Bennu based on OSIRIS-REx measurements.

Nature astronomy·2020
Same author

Global microRNA profiling identified miR-10b-5p as a regulator of neurofibromatosis 1 (NF1)-glioma migration.

Neuropathology and applied neurobiology·2020

Area of Science:

  • Oncology
  • Genetics
  • Cell Biology

Background:

  • Neurofibromatosis type 1 (NF1) is a common genetic disorder.
  • Plexiform neurofibromas are a frequent manifestation of NF1, causing significant morbidity.
  • The NF1 gene product, neurofibromin, regulates cell growth by inhibiting RAS activity.

Purpose of the Study:

  • To review the current understanding of plexiform neurofibroma biology.
  • To discuss challenges in evaluating therapeutic interventions for NF1-associated neurofibromas.
  • To highlight the need for improved molecular and cellular insights for rational therapy design.

Main Methods:

  • Literature review of NF1 and plexiform neurofibroma pathogenesis.
  • Analysis of current and emerging therapeutic strategies.

Related Experiment Videos

  • Discussion of challenges in clinical trial evaluation.

    • Main Results:

    • Loss of NF1 expression in neoplastic Schwann cells leads to elevated RAS activity.
    • Cytokine modulation and cooperating events are implicated in tumor growth.
    • Current treatments are often empiric, with surgery as the primary option.
    • Novel biologic-based therapies targeting molecular pathways are under investigation.

    Conclusions:

    • A deeper understanding of NF1 neurofibroma biology is essential for developing effective treatments.
    • Innovative imaging and quality-of-life measures may improve trial evaluations.
    • Targeting molecular underpinnings offers promise for future NF1 therapies.