title: Familial neuroblastoma - different histological manifestations in a family with three affected individuals.
abstract: Neuroblastoma is one of the most common malignant neoplasms in childhood. These tumours represent a heterogeneous group both in terms of clinical course and histological appearance, ranging from benign, slowly growing, often asymptomatic ganglioneuromas to malignant, highly aggressive neuroblastomas. Most cases occur sporadically, but in rare cases several individuals in the same family present with ganglioneuroblastomatous tumours. We report a case of familial neuroblastoma, occurring in a mother and her two daughters, with very different clinical presentation, outcome and tumour histology. The mother had recurrent, fully mature, benign ganglioneuromas, predominantly located in the retroperitoneum. The two daughters both developed malignant abdominal neuroblastomas, at the age of 2 and 8 years, respectively. Both died in spite of intensive therapy. Hereditary neuroblastoma appears to be as heterogeneous as the sporadic form of the disease. Since no consistent predisposition gene has been located in affected families, several different genetic or epigenetic events may account for the different histological and clinical presentations.
authors.affiliation: Department of Pathology, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.
authors.forename: Zarah G
authors.initials: ZG
authors.lastname: Zimling
authors.forename: Catherine
authors.initials: C
authors.lastname: Rechnitzer
authors.forename: Marianne
authors.initials: M
authors.lastname: Rasmussen
authors.forename: Bodil L
authors.initials: BL
authors.lastname: Petersen
mesh_terms: D000008:Abdominal Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D016271:Proto-Oncogene Proteins c-myc / Q000737:chemistry / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; D016271:Proto-Oncogene Proteins c-myc