title: The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature.
abstract: Gaucher disease (GD) patients have an increased risk of cancer, in particular of hematological origin, while the association between GD and Neuroblastoma (NBL) has never been described. Here we report the case of an adolescent diagnosed with NBL, also presenting splenomegaly and persistent thrombocytopenia. The association with GD, suggested by the histological findings on bone marrow biopsy, was confirmed by enzymatic and genetic tests. The possible pathogenetic mechanisms are briefly reviewed. The evidence of this new association supports the necessity of further studies on GD comorbidities and the need of systematic data collection and analysis, potentially through an international registry. A greater attention for GD in the hemato-oncological field is needed, in order to avoid underdiagnosis and to optimize treatment strategies.
authors.affiliation: Unit of Rare Diseases, Department of Pediatrics, G. Gaslini Institute, Genoa, Italy. Electronic address: annalisa.madeo@libero.it.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Madeo
authors.affiliation: Department of Haematology-Oncology, G. Gaslini Institute, Genoa, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Garaventa
authors.affiliation: Unit of Anatomical Pathology, G. Gaslini Institute, Genoa, Italy.
authors.forename: Angela Rita
authors.initials: AR
authors.lastname: Sementa
authors.affiliation: Department of Haematology-Oncology, G. Gaslini Institute, Genoa, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Suffia
authors.affiliation: Unit of Rare Diseases, Department of Pediatrics, G. Gaslini Institute, Genoa, Italy.
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
mesh_terms: D000293:Adolescent; D001853:Bone Marrow / Q000473:pathology; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009447:Neuroblastoma / Q000150:complications* / Q000473:pathology; D013163:Splenomegaly / Q000150:complications / Q000473:pathology; D013921:Thrombocytopenia / Q000150:complications / Q000473:pathology
keywords: Adolescent; Cancer pathogenesis; Gaucher disease; Neuroblastoma; Sphingolipids