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
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Proto-Oncogene Proteins c-mdm2/genetics*
2.Research of postoperative epidural analgesia for sufentanil combined with ropivacaine under lower limb surgery in elderly
Jiehua FENG ; Chaoyang LI ; Dong WU ; Jie AO ; Jingjing MU ; Xiaomin LUO
Chinese Journal of Postgraduates of Medicine 2011;34(12):8-10
Objective To investigate the safty and proper concentration of using the sufentanil combined with ropivacaine in patient-controlled epidural analgesia (PCEA) under lower limb surgery in elderly. Methods Eighty patients scheduled for lower limb surgery were divided into 4 groups by random digits table with 20 cases in each. The concentration of the sufentanil were 0.1,0.2,0.3 and 0.4 μ g/ml in group A, B, C, D respectively. The concentration of the ropivacaine were 0.125% in each group for the PCEA.R-VAS, C-VAS , Bromage score, Ramsay score, press times ,dosage and side effects were monitored and recorded at 4,10,24 and 48 h after operation. Results Compared with those in group C, D, C-VAS,dosage of the analgesia,press times of PCEA were higher in group A,B (P<0.01 or < 0.05),the efficacy of press was lower in group A, B(P<0.05), but there was no significant difference between group C and group D(P>0.05 ).The Ramsay score 10,24 h after operation in group D[(4.5 ± 0.5 ), (4.6 ± 0.6) scores] was higher than that in group A,B,C [(2.7 ±0.8), (2.7 ±0.8) scores vs.(2.9 ± 0.9), (2.7 ± 0.9) scores vs. (3.0 ±0.7), (2.9 ±0.5) scores] (P <0.05). There were no case with hypotension and respiratory depression.Conclusion PCEA of four methods are safe and effective in elderly which 0.3 μ g/ml sufentanil combined with 0.125% ropivacaine have good analgesic effect and less side effect.

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