Related Experiment Video
Updated: Jul 23, 2025
A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma DIPG
Published on: March 7, 2017
Metanephric stromal tumor in an adult with PDGFRA mutation: a case report
Sanjun Guo1, Huan Qian2, Hong Zhu1
1Department of Pathology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, 610072, China.
Background:
Metanephric stromal tumors (MST) are rare benign renal tumors that mainly occur in infants and children. Approximately 72% of MST in children have the B-Raf proto-oncogene serine/threonine kinase (BRAF) V600E mutation. To date, only five cases of adult MSTs have been reported and no clear genetic alterations have been found.
Case Presentation:
We report a case of MST in a 45-year-old woman who complained of left lower back pain for a week, accompanied by hypertension (150/79 mmHg). Magnetic resonance imaging (MRI) showed an abnormally enhanced nodule (1.1 cm in the middle of the left kidney), which was histopathologically consistent with an MST. The BRAF V600E mutation was not detected in tumor cells using PCR and next-generation sequencing (NGS). However, a platelet-derived growth factor receptor alpha (PDGFRA) mutation was detected in this case using NGS. The patient showed no recurrence or metastasis nine months after partial nephrectomy, and her blood pressure was consistently normal.
Conclusion:
This is the first report of alterations in PDGFRA in MSTs. This result advances our knowledge of genetic variations in adult MSTs, which may have different gene alterations from MSTs in children.
Insights
Metanephric stromal tumors (MST) in adults are rare and may differ genetically from pediatric cases. This study identified a platelet-derived growth factor receptor alpha (PDGFRA) mutation in an adult MST, a finding not previously reported.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Metanephric stromal tumors (MST) are rare, benign renal neoplasms predominantly affecting pediatric patients.
- The BRAF V600E mutation is identified in approximately 72% of pediatric MSTs.
- Genetic alterations in adult MSTs remain largely uncharacterized, with only five cases previously reported.
