INFORMAZIONI SU
VALENTI Beatrice
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Supervisore: Dr.ssa Maestro Molecular Dissection of Retroperitoneal Dedifferentiated Liposarcoma |
| Dedifferentiated liposarcoma (DDLPS) is a rare type of malignancy that mostly occurs in the retroperitoneum space. DDLPS is characterized by chromosome 12q13-15 amplification that involves MDM2, CDK4, and HMGA2. Based on the expression of specific molecular markers, DDPLS is classified as, tumor that lacks a define lineage of differentiation, and tumor with heterologous differentiation, like muscular differentiation. DDLPS with muscular differentiation and especially with rhabdomyoblastic differentiation (rDD) are characterized by positivity for MYOG. rDD exhibit a more aggressive behavior with a lower overall survival rate compared to DDLPS without a defined lineage of differentiation. Through mRNA NGS profiling, immunohistochemistry, and a targeted mutation panel in a series of DDLPS, we aimed to identify a set of genes potentially involved in transcriptional disruption during the progression of rDD, and to elucidate the molecular events supporting the more aggressive behavior of this type of tumors. | |