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In the last years, much progress has been achieved in the treatment of lysosomal storage disorders. Until recently only symptomatic treatment was available for the affected patients. Progressively enzyme replacement treatments have been developed for several diseases, namely Gaucher disease, Fabry disease, mucopolysaccharidoses type I, II and VI and Pompe disease. In this review we will summarize the efficacy and safety of these treatments and describe new therapeutic trials for other lysosomal storage disorders or perspectives in the use of currently available treatments.

Ewing's tumor (ET) is a malignant bone tumor occurring in children and young adults. ET affects mainly bones of the central axis, and almost always involves soft tissue infiltration. The discovery of a unique genetic alteration, which is a reciprocal translocation most frequently resulting in the fusion of the EWS gene situated on chromosome 22 with the FLI-1 gene on chromosome 11, currently places ET among neuroectodermal tumors. Moreover, this translocation is a tumor-specific genetic marker at the basis of defining ET today and is used as a diagnostic and potentially prognostic tool complementary to imaging and histopathological work-up. Since the 1970 s, important progress has been made in the clinical management of ET patients. Multiagent chemotherapy in association with local treatment (surgery and/or radiation) has clearly improved outcome. The introduction of systemic treatment was justified by the frequent sub-clinical diffusion of apparently localized ET. Intensified therapeutic strategies have for the first time cured some metastatic ET patients, but at the cost of major side effects. Treatment is currently adapted as a result of a better definition of prognostic factors as well as a better assessment of its adverse effects. Improvement in global patient care and increased management of specific acute complications associated with ET (often interwoven with iatrogeneous effects) represent an important step towards improving the quality of life for ET patients as well as preventing long term complications. In the light of present studies, the majority of surviving adults today describe their health and quality of life as good. ET is a fascinating example of the progress made not only in the diagnostic and therapeutic approach to cancer but also in the comprehension of the mechanisms behind carcinogenesis, and consequently reflects the revolution of medicine over the last century.