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 NF1 mutations have not been studied extensively. 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 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. 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.

中文翻译：

---

去分化脂肪肉瘤多发肺转移的致病性NF1截短突变和拷贝数变化：病例报告

去分化脂肪肉瘤（DDLPS）约占脂肪肉瘤的15％至20％，是一种高度恶性的恶性肿瘤，对可用的治疗药物反应较差。但是，DDLPS的遗传改变概况以及NF1突变的作用尚未得到广泛研究。本研究报道了一名患者，DDLPS迅速增长，并伴有多处肺和胸膜转移，其全外显子组测序显示已知病原体变体c.C7486T，p.R2496X的NF1截短突变以及多拷贝数改变（CNA），包括众所周知的12q13–15扩增，以及涉及潜在的与癌症相关的基因的多种染色质病。我们的结果表明，除了12q13–15扩增之外，