Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report.
Yoon-Seob KimSun ShinSeung-Hyun JungYeun-Jung ChungPublished in: BMC medical genetics (2020)
Our 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.