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Supervisore: Dr.ssa Maestro

Molecular characterization of sarcoma malignant behavior

My project concerns the mechanism of tumor spreading in two vascular tumors of the bone, namely
Epithelioid Hemangioma (EH) and Epithelioid hemangioendothelioma (EHE). These ultra-rare tumors are characterized by recurrent chromosome rearrangements. Gene fusions involving FOS or FOSB are detected in ~60% of EH, whilst WWTR1-CAMTA1 fusions typify ~90% of EHE. One common feature of these tumors is multifocal presentation. Whether these tumor growths are independent tumors or rather represent the metastatic spreading of the primary neoplasm is still debated. The aim of my work is to shed light on this issue, through a molecular analysis of multiple lesions derived from the same patient, using the fusion breakpoint as clonality markers. An Anchored Multiplex PCR assay will be used for fusion breakpoint identification. Orthogonal validations will eventually confirm the monoclonal origin of multiple lesions and clarify if there is a propensity for metastatic spreading.