Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

Research output: Contribution to journalReview articlepeer-review

Abstract

Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are three clinically distinct tumor predisposition syndromes with a shared tendency to develop peripheral and central nervous system neoplasms. Disease expression and complications of NF1, NF2, and SWN are highly variable, necessitating a multidisciplinary approach to care in order to optimize outcomes. This review will discuss the imaging appearance of NF1, NF2, and SWN and highlight the important role that imaging plays in informing management decisions in people with tumors associated with these syndromes. Recent technological advances, including the role of both whole-body and localized imaging strategies, routine anatomic and advanced magnetic resonance (MR) imaging sequences such as diffusion-weighted imaging (DWI) with quantitative apparent diffusion coefficient (ADC) mapping, and metabolic imaging techniques (MR spectroscopy and positron emission testing) are discussed in the context of the diagnosis and management of people with NF1, NF2, and SWN based on the most up-to-date clinical imaging studies.

Original languageEnglish (US)
Pages (from-to)199-219
Number of pages21
JournalSkeletal Radiology
Volume49
Issue number2
DOIs
StatePublished - Feb 1 2020

Keywords

  • Apparent diffusion coefficient (ADC) values
  • Diffusion-weighted imaging (DWI)
  • Imaging biomarkers
  • Magnetic resonance imaging (MRI)
  • Malignant peripheral nerve sheath tumor (MPNST)
  • Neurofibromatosis type 1 (NF1)
  • Neurofibromatosis type 2 (NF2)
  • Schwannomatosis (SWN)

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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