Whole exome sequencing of well-differentiated liposarcoma and dedifferentiated liposarcoma in older woman: a case report

• Published in: Frontiers in medicine Vol. 10
• Main Authors: Zhao, Zidan, Chen, Xiaoyan, Xu, Jie, Shi, Yuntao, Mak, Tsz Kin, Huo, Mingyu, Zhang, Changhua
• Format: Journal Article
• Language: English
• Published: Frontiers Media S.A 15-08-2023
• Subjects: dedifferentiated liposarcoma; Medicine; retroperitoneal tumor; ROS1-related fusion; well-differentiated liposarcoma; whole-exome sequencing
• ISSN: 2296-858X; 2296-858X
• DOI: 10.3389/fmed.2023.1237246

BackgroundCommon kinds of soft tissue sarcomas (STS) include well-differentiated liposarcoma (WDLPS) and dedifferentiated liposarcoma (DDLPS). In this case, we present a comprehensive clinical profile of a patient who underwent multiple recurrences during the progression from WDLPS to DDLPS.Case presentationA 62-year-old Asian female underwent retroperitoneal resection of a large tumor 11 years ago, the initial pathology revealed a fibrolipoma-like lesion. Over the next six years, the patient underwent three resections for recurrence of abdominal tumors. Postoperative histology shows mature adipose tissue with scattered “adipoblast”-like cells with moderate-to-severe heterogeneous spindle cells, pleomorphic cells, or tumor giant cells. Immunohistochemistry (IHC) demonstrated positive staining for MDM2 and CDK4, confirming that the abdominal tumor was WDLPS and gradually progressing to DDLPS. Post-operative targeted sequencing and IHC confirmed the POC1B::ROS1 fusion gene in DDLPS. Whole-exome sequencing (WES) revealed that WDLPS and DDLPS shared similar somatic mutations and copy number variations (CNVs), whereas DDLPS had more mutated genes and a higher and more concentrated amplification of the chromosome 12q region. Furthermore, somatic mutations in DDLPS were significantly reduced after treatment with CDK4 inhibitors, while CNVs remained elevated.ConclusionDue to the high likelihood of recurrence of liposarcoma, various effective treatments should be taken into consideration even if surgery is the primary treatment for recurrent liposarcoma. To effectively control the course of the disease following surgery, combination targeted therapy may be a viable alternative to chemotherapy and radiotherapy in the treatment of liposarcoma.