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Updated: May 11, 2026

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

Published on: October 10, 2025

Neurofibromatosis.

¹Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

Handbook of Clinical Neurology

|April 30, 2013

Summary

Neurofibromatoses are genetic disorders causing nerve sheath tumors, including NF1, NF2, and schwannomatosis. Genetic testing and new treatments are advancing for these conditions.

Area of Science:

Genetics
Oncology
Neurology

Background:

Neurofibromatoses (NF) are a group of distinct genetic disorders characterized by the development of nerve sheath tumors.
These conditions, including NF1, NF2, and schwannomatosis, are dominantly inherited with high mutation rates and variable expressivity.

Purpose of the Study:

To provide an overview of the neurofibromatoses, encompassing their genetic basis, clinical manifestations, and current research.
To highlight the known genetic underpinnings and the ongoing development of therapeutic strategies.

Main Methods:

Review of the clinical and genetic characteristics of NF1, NF2, and schwannomatosis.
Discussion of diagnostic approaches, including genetic testing for mutations.
Overview of emerging insights into pathogenesis and ongoing therapeutic trials.

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Identifying, Diagnosing, and Grading Malignant Peripheral Nerve Sheath Tumors in Genetically Engineered Mouse Models

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Published on: May 17, 2024

Main Results:

NF1 is associated with tumors (neurofibromas), bone dysplasia, learning disabilities, and malignancy risk.
NF2 involves cranial and spinal nerve schwannomas, meningiomas, and ependymomas.
Schwannomatosis presents with multiple schwannomas, often causing pain.

Conclusions:

The genetic causes for NF1, NF2, and schwannomatosis (NF1, NF2, and INI1/SMARCB1 genes, respectively) are identified.
Genetic testing is available for mutation identification.
Advancements in understanding pathogenesis are paving the way for novel treatment strategies and clinical trials.