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

Oct 6, 2026

A case report details the clinical evolution of retroperitoneal liposarcoma in a 62-year-old woman as the tumor progressed from well-differentiated liposarcoma (WDLPS) to dedifferentiated liposarcoma (DDLPS) through multiple recurrences. Initial pathology showed an atypical afibrolipoma-like lesion, with subsequent resections revealing progression on histology and immunohistochemistry (MDM2/CDK4). Whole-exome sequencing compared WDLPS and DDLPS, showing shared somatic mutations/CNVs but greater mutational burden and intensified 12q amplification in DDLPS. After CDK4 inhibitor treatment, DDLPS mutations decreased while CNVs stayed elevated, guiding combination targeted considerations for recurrence management.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages10

Reading Time25 min

AccessFree to download

Background

Materials and methods

Case presentation

Conclusion

TYPE Case Report PUBLISHED 15 August 2023 DOI 10.3389/fmed.2023.1237246 OPEN ACCESS EDITED BY Andrew Churg, University of British Columbia, Canada REVIEWED BY Yin P. Hung, Massachusetts General Hospital and Harvard Medical School, United States Tony Ng, University of British Columbia, Canada *CORRESPONDENCE Mingyu Huo [mingyu9318@163.com](mingyu9318@163.com)[ ](mingyu9318@163.com)Changhua Zhang [zhchangh@mail.sysu.edu.cn](zhchangh@mail.sysu.edu.cn) †These authors have contributed equally to this work and share first authorship RECEIVED 12 June 2023 ACCEPTED 31 July 2023 PUBLISHED 15 August 2023 CITATION Zhao Z, Chen X, Xu J, Shi Y, Mak TK, Huo M and Zhang C (2023) Whole exome sequencing of well-differentiated liposarcoma and dedifferentiated liposarcoma in older woman: a case report. Front. Med. 10:1237246 . doi: 10.3389/fmed.2023.1237246 COPYRIGHT © 2023 Zhao, Chen, Xu, Shi, Mak, Huo and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. Whole exome sequencing of well-differentiated liposarcoma and dedifferentiated liposarcomain older woman: a case report Zidan Zhao 1†, Xiaoyan Chen 1†, Jie Xu 2†, Yuntao Shi 1, Tsz Kin Mak 1, Mingyu Huo 1, 3* and Changhua Zhang 1, 3* 1 Digestive Diseases Center, The Seventh Affiliated Hospital of Sun Yat-sen University, Shenzhen, China, 2 Department of Pathology, The Seventh Affiliated Hospital of Sun Yat-Sen University, Shenzhen, Guangdong, China, 3Guangdong Provincial Key Laboratory of Digestive Cancer Research, The Seventh Affiliated Hospital of Sun Yat-sen University, Shenzhen, Guangdong, China Background: Common kinds of soft tissue sarcomas (STS) include welldifferentiated 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 presentation: A 62-year-old Asian female underwent retroperitoneal resection of a large tumor 11 years ago, the initial pathology revealed afibrolipoma-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-tosevere 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. Conclusion: Due 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. KEYWORDS retroperitoneal tumor, well-differentiated liposarcoma, dedifferentiated liposarcoma, ROS1-related fusion, whole-exome sequencing Frontiers in Medicine 01 [frontiersin.org](frontiersin.or

FAQs

How did the diagnosis progress from WDLPS to DDLPS in this case?

The patient underwent retroperitoneal resections over several years. Histology and immunohistochemistry showed maturation of adipose tissue initially, followed by features consistent with dedifferentiation, with positive MDM2 and CDK4 staining supporting progression to DDLPS.

What molecular findings were detected using sequencing and targeted assays?

Whole-exome sequencing showed WDLPS and DDLPS shared similar somatic mutations and CNVs, while DDLPS carried more mutated genes and higher, more focused amplification of chromosome 12q. Targeted sequencing and IHC also confirmed a POC1B::ROS1 fusion gene in DDLPS.

What was the observed effect of CDK4 inhibitor treatment on DDLPS?

After treatment with CDK4 inhibitors, somatic mutations in DDLPS were significantly reduced. CNVs remained elevated, indicating differential persistence of copy-number alterations compared with mutation burden.

Oct 6, 2026

Uploaded by RuangKosong