MDM4 amplification in a case of dedifferentiated liposarcoma and in silico data supporting an oncogenic event alternative to MDM2 amplification in a subset of cases

Abstract

Well differentiated and dedifferentiated liposarcomas (WD/DDLPS) are underlined by 12q13-q14 amplifications encompassing MDM2, considered as the core oncogene driving their pathogenesis through TP53 inactivation^{1, 2}. Their progression involves the inactivation of the RB1 pathway through CDKN2A-CCND1-CDK4 alterations³. According to the French sarcoma database RRePS, 1% of cases suspicious for WD/DDLPS fail to prove MDM2 amplification, therefore suggesting that alternative oncogenic pathways might replace MDM2 amplification.

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