title: Possible pathogenetic relationship between Fabry disease and renal cell carcinoma.
abstract: The occurrence of renal cell carcinoma (RCC) in Fabry disease (FD) is a rare event. We report a deep ultrastructural study of RCC in a patient with a previous histological diagnosis of FD. In order to highlight analogies and differences between the two histological samples, we used the nephrectomy specimen as a 'repeat biopsy', making a dynamic analysis of the evolution of the disease-related kidney damage. Secondly, a comparative ultrastructural analysis between non-neoplastic tissue and cancer demonstrated for the first time the presence of zebra bodies in the tumor cells. Finally, a hypothetical speculation about the relationship between the lysosomal accumulation, the oxidative damage and the genesis of the tumor was performed. The link connected the accumulation of glycosphingolipid globotriaosylceramide, characteristic of FD, with the expression of CD74 and macrophage migration inhibitory factor that may play an important role in tumorigenesis regulated by the Von Hippel-Lindau/hypoxia-inducible factor 1α pathway.
authors.affiliation: Department of Pathology, San Gerardo Hospital, University of Milan-Bicocca, Monza, Italy. fabio.pagni@unimib.it
authors.forename: Fabio
authors.initials: F
authors.lastname: Pagni
authors.forename: Federico
authors.initials: F
authors.lastname: Pieruzzi
authors.forename: Stefano
authors.initials: S
authors.lastname: Zannella
authors.forename: Antonella
authors.initials: A
authors.lastname: Di Giacomo
authors.forename: Giorgio
authors.initials: G
authors.lastname: Bovo
authors.forename: Franco
authors.initials: F
authors.lastname: Ferrario
authors.forename: Giacomo
authors.initials: G
authors.lastname: Torti
authors.forename: Rodolfo
authors.initials: R
authors.lastname: Rivera
authors.forename: Emma
authors.initials: E
authors.lastname: Assi
authors.forename: Federica
authors.initials: F
authors.lastname: Viglione
authors.forename: Manuela
authors.initials: M
authors.lastname: Nebuloni
mesh_terms: D000944:Antigens, Differentiation, B-Lymphocyte / Q000378:metabolism; D002292:Carcinoma, Renal Cell / Q000150:complications / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D000795:Fabry Disease / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D005260:Female; D000949:Histocompatibility Antigens Class II / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000648:ultrastructure; D007680:Kidney Neoplasms / Q000150:complications / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D008263:Macrophage Migration-Inhibitory Factors / Q000378:metabolism; D008875:Middle Aged
chemical_list: D000944:Antigens, Differentiation, B-Lymphocyte; D000949:Histocompatibility Antigens Class II; D008263:Macrophage Migration-Inhibitory Factors; C045084:invariant chain