title: [The role of diagnostic neuropathology in familial tumour syndromes].
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.
authors.affiliation: Institut für Neuropathologie, Universitätsklinikum des Saarlandes, 66421, Homburg/Saar.
authors.forename: S
authors.initials: S
authors.lastname: Feiden
authors.forename: E
authors.initials: E
authors.lastname: Sartorius
authors.forename: W
authors.initials: W
authors.lastname: Feiden
mesh_terms: D016543:Central Nervous System Neoplasms / Q000235:genetics / Q000473:pathology; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D002886:Chromosomes, Human, Pair 17; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D016514:Genes, Neurofibromatosis 1; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics / Q000473:pathology; D009369:Neoplasms / Q000235:genetics* / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000235:genetics / Q000473:pathology; D009464:Neuroma, Acoustic / Q000235:genetics / Q000473:pathology; D010524:Peripheral Nervous System Neoplasms / Q000235:genetics / Q000473:pathology; D018335:Rhabdoid Tumor / Q000235:genetics / Q000473:pathology; D013724:Teratoma / Q000235:genetics / Q000473:pathology; D014402:Tuberous Sclerosis / Q000235:genetics / Q000473:pathology