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Neurofibromatosis type 2 and multiple sclerosis.

Dario-Lucas Helbing¹, Michael Brodhun², Oliver Tiedge³

¹Department of Neurosurgery, Helios Klinikum, Erfurt 99089, Germany; Leibniz Institute for Age Research, Fritz Lipmann Institute, Jena 07745, Germany; Faculty of Medicine, Friedrich-Schiller-University Jena, 07743, Jena, Germany.

Multiple Sclerosis and Related Disorders

|December 22, 2019

Summary

Neurofibromatosis type 2 (NF2) and multiple sclerosis (MS) rarely co-occur. This case study reveals increased T cells in NF2 schwannomas from patients with MS, suggesting immune system involvement in tumor growth.

Keywords:

Macrophages Multiple sclerosis Neurofibromatosis type 2 Schwannoma T-cells

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Area of Science:

Neuro-oncology
Immunology
Genetics

Background:

Neurofibromatosis type 2 (NF2) is a genetic disorder characterized by schwannoma development.
Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system.
The comorbidity of NF2 and MS is exceptionally rare, prompting investigation into shared or interacting mechanisms.

Observation:

A patient with a de novo NF2 mutation developed MS later in life.
Analysis of a laryngeal schwannoma from this patient revealed a significantly higher T cell count compared to a schwannoma from an NF2 patient without MS.

Findings:

The presence of MS in an NF2 patient correlated with increased T cell infiltration in schwannoma tissue.
This heightened immune cell presence was associated with a more rapid schwannoma growth rate.

Implications:

Immune system modulation may play a role in schwannoma pathogenesis in NF2 patients.
Understanding the interplay between NF2 and MS could offer novel therapeutic targets for schwannoma management.
Further research into immunological mechanisms in NF2 is warranted.