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Development and Initial Validation of the Quality of life Evaluation in <i>NF2</i> -related Schwannomatosis Trials (QUEST) Assessment.

medRxiv : the preprint server for health sciences·2026
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Characteristics, treatment patterns, healthcare resource use, and costs among adult patients diagnosed with neurofibromatosis type 1 and plexiform neurofibromas in the United States.

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Reliability of a modified mini balance evaluation systems test (Mini-BESTest) in NF2-related schwannomatosis.

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Deciphering and Targeting the Schwannoma-Neuron-Macrophage Crosstalk for the Treatment of Schwannomatosis and Associated Pain.

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A cochlea-sparing strategy for non-invasive control of intracranial schwannomas via peripheral irradiation and anti-PD-1 therapy enhanced by STING activation.

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Updated: Oct 13, 2025

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
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Neurofibromatoses.

Justin T Jordan1, Scott R Plotkin1

  • 1Pappas Center for Neuro-Oncology and Family Center for Neurofibromatosis, Massachusetts General Hospital, Department of Neurology, 55 Fruit Street, Yawkey 9E, Boston, MA 02114, USA.

Hematology/Oncology Clinics of North America
|November 10, 2021
PubMed
Summary
This summary is machine-generated.

Neurofibromatoses are genetic disorders causing tumors, primarily affecting the nervous system. Types include Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), and Schwannomatosis, each with distinct tumor risks and symptoms.

Keywords:
EpendymomaMeningiomaNeurofibromaNeurofibromatosisSchwannomaSchwannomatosis

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Area of Science:

  • Genetics
  • Oncology
  • Neurology

Background:

  • Neurofibromatoses (NF) are inherited disorders.
  • They lead to nervous system tumors and systemic issues.
  • NF1 is common with variable symptoms and high malignancy risk.
  • NF2 causes significant morbidity without malignant tumors.
  • Schwannomatosis involves nonvestibular schwannomas and pain.

Purpose of the Study:

  • To differentiate between major types of neurofibromatoses.
  • To highlight the varying clinical manifestations and risks associated with each type.

Main Methods:

  • Review of existing literature on neurofibromatoses.
  • Comparative analysis of clinical features and tumor profiles for NF1, NF2, and Schwannomatosis.

Main Results:

  • Neurofibromatosis type 1 presents with the highest prevalence, phenotypic variability, and risk of malignant tumors.
  • Neurofibromatosis type 2 is characterized by significant morbidity, including deafness and facial weakness, but not malignant tumors.
  • Schwannomatosis, the least common form, is defined by nonvestibular schwannomas and associated pain.

Conclusions:

  • Understanding the distinct characteristics of NF1, NF2, and Schwannomatosis is crucial for accurate diagnosis and management.
  • Each neurofibromatosis type requires tailored clinical approaches due to differing prognoses and complications.