Imaging of Tumor Syndromes

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Key points

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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,

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

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    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.

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    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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