Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report release_dp7gm2t64bedjl2nrjohfxxn7i

Abstract

<jats:title>Abstract</jats:title> <jats:sec> <jats:title>Background</jats:title> 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. However, genetic alteration profiles of DDLPS as well as the role of <jats:italic>NF1</jats:italic> mutations have not been studied extensively. </jats:sec> <jats:sec> <jats:title>Case presentation</jats:title> The current study reports a patient presenting with rapidly growing DDLPS accompanied by multiple lung and pleural metastases, in whom whole-exome sequencing revealed a <jats:italic>NF1</jats:italic> 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. </jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> Our results suggest that, in addition to the 12q13–15 amplification, <jats:italic>NF1</jats:italic> inactivation mutation and other CNAs may contribute to DDLPS tumorigenesis accompanied by aggressive clinical features. </jats:sec>
In application/xml+jats format

Archived Files and Locations