Diagnostic and therapeutic considerations for primary penal synovial sarcoma with specific MDM2 gene amplification: A case report
Year: 2025
Type: article
Study design: Case Report
Abstract: BACKGROUND Primary renal synovial sarcoma (PRSS) is extremely rare in clinical practice, and most cases are associated with SYT-SSX gene fusion. The PRSS with specific MDM2 gene amplification has not been reported so far. Therefore, there is no practical experience regarding the clinical, pathological features and diagnosis and treatment plans for patients of this type. This article reports a case of PRSS with specific MDM2 gene amplification. CASE SUMMARY The patient was preoperatively diagnosed with a malignant tumor of the left kidney (with a high probability of clear cell carcinoma). During the operation, a radical left nephrectomy was performed. The postoperative pathological examination report confirmed synovial sarcoma, and the gene test suggested PRSS with specific MDM2 gene amplification. Forty-eight days after the operation, the patient presented with "abdominal distension and diarrhea" and was found to have a huge metastatic tumor in the original left renal area. The patient died clinically 17 hours after admission due to "multiple organ failure". CONCLUSION PRSS with MDM2 gene amplification has a poorer prognosis, a higher degree of malignancy, and a faster progression, and clinicians need to be highly vigilant.
Authors: Chao-Hua Deng, Yuan Zhou, Jing Chen, Guo-Fu He, Qun-Shan Fu, Jiong-Ming Li, Guang Wang, Xiao-Dong Hu
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4408494345