Abstract
BackgroundDedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. However, genetic alteration profiles of DDLPS as well as the role of NF1 mutations have not been studied extensively.Case presentationThe current study reports a patient presenting with rapidly growing DDLPS accompanied by multiple lung and pleural metastases, in whom whole-exome sequencing revealed a NF1 truncating mutation of the known pathogenic variant, c.C7486T, p.R2496X, as well as multiple copy number alterations (CNAs), including the well-known 12q13–15 amplification, and multiple chromothripsis events encompassing potential cancer-related genes.ConclusionsOur results suggest that, in addition to the 12q13–15 amplification, NF1 inactivation mutation and other CNAs may contribute to DDLPS tumorigenesis accompanied by aggressive clinical features.
Highlights
Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents
Discussion and conclusions genetic alteration of NF1 is commonly found in liposarcomas (10–20%) [5, 6], inactivation of NF1 by a mutation or a deletion may contribute to the aggressiveness of liposarcoma [5, 10]
Processes associated with the occurrence of NF1 mutations in DDLPS remain unclear
Summary
Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. MDM4 amplification was observed in 0.6 and 5% of DDLPS cases via the GENIE study [7] and the TCGA study [2], respectively (Fig. S1A). In TCGA soft tissue sarcoma project (N = 265) in cBioPortal database, patients carrying NF1 truncating or missense mutations showed significantly lower NF1 mRNA expression levels than
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