Molecular pathology assisted diagnosis of Dedifferentiated liposarcoma in a case and analyzed its clinical and genetic characteristics
10.3760/cma.j.cn511374-20250320-00168
- VernacularTitle:去分化脂肪肉瘤患者1例的临床表型及遗传学分析
- Author:
Jingjing AO
1
;
Feicheng YANG
;
Yuzhong YANG
;
Jia TIAN
;
Chenjia LU
;
Xiaoying LIU
;
Zhe ZHANG
;
Wenxiu YANG
;
Chunjian MO
Author Information
1. 湖南省人民医院（湖南师范大学附属第一医院）病理科，长沙 410000
- Publication Type:Journal Article
- Keywords:
MDM2 gene;
De-differentiated liposarcoma;
High-throughput sequencing;
Fluorescence in situ hybridization
- From:
Chinese Journal of Medical Genetics
2025;42(6):741-746
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics and genetic etiology of a patient with De-differentiated liposarcoma (DDLPS).Methods:A 38-year-old female patient with DDLPS who had visited Hunan Provincial People′s Hospital in January 2025 was selected as the study subject. A retrospective study method was adopted to collect the patient′s clinical data, including current and past medical history, auxiliary examinations, pathological diagnosis, and results of genetic testing. This study was approved by the Ethics Committee of Hunan Provincial People′s Hospital (Ethics No.: KY2025-150).Results:The patient had presented with abdominal pain and abdominal mass. Imaging studies revealed ascites and space-occupying abdominal lesions. Postoperative pathological examination showed that the tumor was composed of spindle cells, and its morphology and immunohistochemistry had made it difficult to distinguish between DDLPS and leiomyosarcoma. High-throughput sequencing revealed characteristic molecular alterations of DDLPS, and fluorescence in situ hybridization confirmed MDM2 gene amplification, leading to a diagnosis of DDLPS. Conclusion:The patient was diagnosed with DDLPS. Her clinical manifestations and pathological features were consistent with the characteristics of DDLPS. Molecular pathological testing played a crucial role in the diagnosis and provided a crucial reference for subsequent treatment.
