Caratterizzazione biomolecolare delle neoplasie lipomatose

Among the liposarcomas, the atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma subtypes are more frequent. It is often difficult to distinguish these from other tumors with similar morphological characteristics. The cytogenetic hallmark of these tumors is he presence of supernumerary chromosomes and giant ring chromosomes which consist mainly of amplified sequences of the region 12q13-15. In this region mapped several genes including the gene MDM2 ( murine double Minute-2). The molecular characterization of these subtypes becomes extremely important both for diagnostic purposes and for a correct therapeutic approach , especially today, after the introduction into clinical practice of targeted biological therapies (targeted therapies). In the present study is analyzed the role of FISH analysis for the evaluation of the MDM2 status in lipomatous neoplasms and to determine whether this marker could be used in the differential diagnosis of these tumors. Although this study confirms the diagnostic utility of MDM2 amplification in the diagnosis of atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma, this marker could have in the future a wider application . Given the recent introduction of selective inhibitors of MDM2 such research is important not only for diagnostic purposes but also for the selection of patients who may in the future benefit from treatment with these inhibitors. This study was also performed to analyze the biological relevance of the pathway that involves the AKT gene in well-differentiated and dedifferentiated liposarcoma and to determine whether this pathway may represent a useful therapeutic target in these tumors . The data obtained demonstrate that AKT is expressed and activated in all cases of atypical lipomatous tumor/well differentiated liposarcoma and dedifferentiated liposarcoma .