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Cancer predisposition syndromes affecting the central nervous system represent a diverse subgroup of lesions, including intra-axial malignant brain tumors, extra-axial nerve sheath tumors, spinal cord tumors, vascular masses, pituitary tumors, and various hamartomas, with markedly different phenotypes both within and outside the neural axis.
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Advances in knowledge of the underlying genomics and cancer pathways has enhanced understanding of the tumor behavior, resulting in improved diagnostics,
Imaging of Tumor Syndromes
Section snippets
Key points
Neurofibromatosis
Neurofibromatosis is a group of hereditary syndromes with tumors involving the central and peripheral nervous systems, including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis.
Neurofibromatosis Type 1
NF1, also known as peripheral neurofibromatosis and von Recklinghausen disease, is an autosomal dominant (AD) syndrome, with high penetrance and variable expressivity, with an incidence of 1 in 3000. The mutation affects the neurofibromin tumor suppressor gene located in the long arm
Clinics care points
Heritable and non-heritable cancer syndromes affecting the central nervous system have distinctive underlying mutations and molecular pathways, resulting in a myriad of both tumors, and non-tumorous lesions, with unique histopathological and imaging features. Recent advances in radiogenomics and understanding of cancer pathways, have led to renewed emphasis on screening and early diagnosis, targeting for innovating therapies, optimizing surveillance for monitoring therapies and follow up with
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References (62)
- et al.
Empirical development of improved diagnostic criteria for neurofibromatosis 2
Genet Med
(2011) - et al.
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing
Genet Med
(2019) - et al.
Neurofibromatosis type 2
Lancet
(2009) - et al.
von Hippel-Lindau disease
Lancet
(2003) - et al.
von Hippel-Lindau disease: review of genetics and imaging
Radiol Clin North Am
(2016) - et al.
International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Pediatr Neurol
(2013) - et al.
CT and MR imaging of cerebral tuberous sclerosis
Brain Dev
(1998) Gastrointestinal inherited polyposis syndromes
Mod Pathol
(2003)- et al.
Malignant ependymomas in a patient with Turcot’s Syndrome: Case report and management guidelines
Surg Neurol
(1998) - et al.
Pediatric cancer predisposition imaging: focus on whole-body MRI
Clin Cancer Res
(2017)
Neurofibromatosis: a review of NF1, NF2, and schwannomatosis
J Pediatr Genet
Cross-sectional imaging of peripheral nerve sheath tumors
Am J Roentgenol
Familial spinal neurofibromatosis
Neuropediatrics
Pathology of tumors of the peripheral nerve sheath
Am J Med Genet
Extraaxial neurofibromas versus neurilemmomas: discrimination with MRI
Am J Roentgenol
Optic Pathway glioma: correlation of imaging findings with the presence of neurofibromatosis
AJNR Am J Neuroradiol
Optic pathway gliomas: A review
Neurosurg Focus
Neurofibromatosis type 1: Pathologic substrate of high-signal-intensity foci in the brain
Radiology
Neurofibromatosis type 1: The evolution of deep gray and white matter MR abnormalities
AJNR Am J Neuroradiol
Cerebrovascular dysplasia in neurofibromatosis type 1
J Neurol Neurosurg Psychiatry
Neurofibromatosis type 2 (NF2): A clinical and molecular review
Orphanet J Rare Dis
An update on the CNS manifestations of neurofibromatosis type 2
Acta Neuropathol
Schwannomatosis: A genetic and epidemiological study
J Neurol Neurosurg Psychiatry
Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition
Dan Med J
Genetic syndromes associated with central nervous system tumors
Radiographics
The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease
J Neurosurg
Posterior fossa hemangioblastomas: MR imaging
Radiology
Imaging features of von Hippel-Lindau disease
Radiographics
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease
Br J Ophthalmol
MANAGEMENT OF RETINAL HEMANGIOBLASTOMA IN VON HIPPEL-LINDAU DISEASE
Retina
Tumors of the endolymphatic sac in von Hippel-Lindau disease
N Engl J Med
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