Neurofibromatosis Type 1 and Type 2: review of the central nervous system and related structures

Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1.

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An Update on Neurofibromatosis Type 1-Associated Gliomas

Cancers ◽

10.3390/cancers12010114 ◽

2020 ◽

Vol 12 (1) ◽

pp. 114 ◽

Cited By ~ 6

Author(s):

Lobbous ◽

Bernstock ◽

Coffee ◽

Friedman ◽

Metrock ◽

...

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Neurofibromatosis Type 1 ◽

Autosomal Dominant ◽

Neurofibromatosis Type ◽

Central Nervous System Neoplasms ◽

Therapeutic Landscape ◽

Nervous System Neoplasms ◽

Collaborative Efforts

Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that affects children and adults. Individuals with NF1 are at high risk for central nervous system neoplasms including gliomas. The purpose of this review is to discuss the spectrum of intracranial gliomas arising in individuals with NF1 with a focus on recent preclinical and clinical data. In this review, possible mechanisms of gliomagenesis are discussed, including the contribution of different signaling pathways and tumor microenvironment. Furthermore, we discuss the recent notable advances in the developing therapeutic landscape for NF1-associated gliomas including clinical trials and collaborative efforts.

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Imaging considerations of central nervous system manifestations in pediatric patients with neurofibromatosis type 1

Pediatric Radiology ◽

10.1007/bf02026665 ◽

1991 ◽

Vol 21 (6) ◽

pp. 389-394 ◽

Cited By ~ 26

Author(s):

F. Menor ◽

L. Martí-Bonmatí ◽

F. Mulas ◽

H. Cortina ◽

R. Olagüe

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Neurofibromatosis Type 1 ◽

Pediatric Patients ◽

Neurofibromatosis Type

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Development and regeneration in the central nervous system

Philosophical Transactions of the Royal Society of London Series B Biological Sciences ◽

10.1098/rstb.1990.0049 ◽

1990 ◽

Vol 327 (1239) ◽

pp. 127-143 ◽

Cited By ~ 22

Keyword(s):

Stem Cells ◽

Central Nervous System ◽

Nervous System ◽

Progenitor Cells ◽

Progenitor Cell ◽

Cell Types ◽

The Central Nervous System

As part of our attempts to understand principles that underly organism development, we have been studying the development of the rat optic nerve. This simple tissue is composed of three glial cell types derived from two distinct cellular lineages. Type-1 astrocytes appear to be derived from a monopotential neuroepithelial precursor, whereas type-2 astrocytes and oligodendrocytes are derived from a common oligodendrocyte-type-2 astrocyte (O-2A) progenitor cell. Type-1 astrocytes modulate division and differentiation of O-2A progenitor cells through secretion of platelet-derived growth factor, and can themselves be stimulated to divide by peptide mitogens and through stimulation of neurotransmitter receptors. In vitro analysis indicates that many dividing O-2A progenitors derived from optic nerves of perinatal rats differentiate symmetrically and clonally to give rise to oligodendrocytes, or can be induced to differentiate into type-2 astrocytes. O-2A perinatal progenitors can also differentiate to form a further O-2A lineage cell, the O-2A adult progenitor, which has properties specialized for the physiological requirements of the adult nervous system. In particular, O-2A adult progenitors have many of the features of stem cells, in that they divide slowly and asymmetrically and appear to have the capacity for extended self-renewal. The apparent derivation of a slowly and asymmetrically dividing cell, with properties appropriate for homeostatic maintenance of existing populations in the mature animal, from a rapidly dividing cell with properties suitable for the rapid population and myelination of central nervous system (CNS) axon tracts during early development, offers novel and unexpected insights into the possible origin of self-renewing stem cells and also into the role that generation of stem cells may play in helping to terminate the explosive growth of embryogenesis. Moreover, the properties of O-2A adult progenitor cells are consistent with, and may explain, the failure of successful myelin repair in conditions such as multiple sclerosis, and thus seem to provide a cellular biological basis for understanding one of the key features of an important human disease.

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