Abstract
Inherited cancer syndromes often involve the central and peripheral nervous system. For the surgical neuropathologist the possibility in individual patients of a familial tumour syndrome needs to be considered in the case of special tumours such as malignant peripheral nerve sheath tumour (MPNST), medulloblastoma with extensive nodularity (MBEN) or even atypical teratoid/rhabdoid tumour (AT/RT) of the brain. Furthermore, tumour location and patient age may point to a familial tumour syndrome as in the case of neurofibromatosis type 2 (NF2) with typical bilateral vestibular schwannoma in young age. This short review discusses some of the diagnostic aspects in this field relating to neurofibromatosis type 1 and 2 (NF1, NF2), as well as the two rare tumors MBEN in Gorlin-Goltz syndrome and AT/RT in particular.
MeSH terms
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Central Nervous System Neoplasms / genetics
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Central Nervous System Neoplasms / pathology
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Chromosome Mapping
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Chromosomes, Human, Pair 16
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Chromosomes, Human, Pair 17
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Chromosomes, Human, Pair 22
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Chromosomes, Human, Pair 9
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Genes, Neurofibromatosis 1
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Genes, Neurofibromatosis 2
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Humans
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Li-Fraumeni Syndrome / genetics
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Li-Fraumeni Syndrome / pathology
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Neoplasms / genetics*
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Neoplasms / pathology*
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Neurofibromatosis 1 / genetics
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Neurofibromatosis 1 / pathology
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Neurofibromatosis 2 / genetics
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Neurofibromatosis 2 / pathology
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Neuroma, Acoustic / genetics
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Neuroma, Acoustic / pathology
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Peripheral Nervous System Neoplasms / genetics
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Peripheral Nervous System Neoplasms / pathology
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Rhabdoid Tumor / genetics
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Rhabdoid Tumor / pathology
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Teratoma / genetics
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Teratoma / pathology
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Tuberous Sclerosis / genetics
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Tuberous Sclerosis / pathology