1.Analysis of clinical phenotype and genetic variant in a patient with De-differentiated liposarcoma.
Jingjing AO ; Feicheng YANG ; Yuzhong YANG ; Jia TIAN ; Chenjia LU ; Xiaoying LIU ; Zhe ZHANG ; Wenxiu YANG ; Chunjian MO
Chinese Journal of Medical Genetics 2025;42(6):741-746
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.
Humans
;
Female
;
Adult
;
Liposarcoma/diagnosis*
;
Phenotype
;
Proto-Oncogene Proteins c-mdm2/genetics*
2.Research progress in chemical constituents and pharmacological action of Chinese medicine pair of Coptidis Rhizoma- Cinnamomi Cortex
International Journal of Traditional Chinese Medicine 2022;44(12):1460-1463
Coptidis Rhizoma- Cinnamomi Cortex is a classic couplet medicine of Traditional Chinese Medicine, which has the function of communicating heart and kidney, and has been widely used in clinic. At present, the chemical composition of Coptidis Rhizoma- Cinnamomi Cortex before and after compatibility, in terms of nature, quality and in vivo processes to carry out research. The drug pair has sedative hypnotic, hypoglycemic, antidepressant, antiarrhythmic and other pharmacological effects, involving regulation of neurotransmitters, regulation of inflammatory cytokines, antioxidant, regulation of intestinal flora and other mechanisms. The existing research is still insufficient, such as the study on the changes of material basis after the compatibility of Coptidis Rhizoma- Cinnamomi Cortex, as well as the pharmacological effects of cardiovascular system, lipid metabolism and perimenopausal syndrome. The best compatibility ratio of Coptidis Rhizoma- Cinnamomi Cortex in sedation, hypnosis, hypoglycemic and antidepressant needs further analysis.

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