Metanephric stromal tumor in an adult with PDGFRA mutation: a case report
Abstract 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...
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| Format: | Article |
| Language: | English |
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BMC
2023-07-01
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| Series: | Diagnostic Pathology |
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| Online Access: | https://doi.org/10.1186/s13000-023-01372-2 |
| _version_ | 1797779035813576704 |
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| author | Sanjun Guo Huan Qian Hong Zhu Yue Yang Xudan Yang Huajun Sun |
| author_facet | Sanjun Guo Huan Qian Hong Zhu Yue Yang Xudan Yang Huajun Sun |
| author_sort | Sanjun Guo |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-12T23:25:56Z |
| format | Article |
| id | doaj.art-22826fee9c7348669d6c4ad1d1125051 |
| institution | Directory Open Access Journal |
| issn | 1746-1596 |
| language | English |
| last_indexed | 2024-03-12T23:25:56Z |
| publishDate | 2023-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj.art-22826fee9c7348669d6c4ad1d11250512023-07-16T11:08:02ZengBMCDiagnostic Pathology1746-15962023-07-011811610.1186/s13000-023-01372-2Metanephric stromal tumor in an adult with PDGFRA mutation: a case reportSanjun Guo0Huan Qian1Hong Zhu2Yue Yang3Xudan Yang4Huajun Sun5Department of Pathology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chinese Academy of Sciences Sichuan Translational Medicine Research HospitalDepartment of Pathology, The First People’s Hospital of GuangyuanDepartment of Pathology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chinese Academy of Sciences Sichuan Translational Medicine Research HospitalDepartment of Pathology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chinese Academy of Sciences Sichuan Translational Medicine Research HospitalDepartment of Pathology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chinese Academy of Sciences Sichuan Translational Medicine Research HospitalDepartment of Pathology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital, Chinese Academy of Sciences Sichuan Translational Medicine Research HospitalAbstract 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.https://doi.org/10.1186/s13000-023-01372-2Metanephric stromal tumorAdultBRAF V600E mutationPDGFRA mutationSmall diameter tumor |
| spellingShingle | Sanjun Guo Huan Qian Hong Zhu Yue Yang Xudan Yang Huajun Sun Metanephric stromal tumor in an adult with PDGFRA mutation: a case report Diagnostic Pathology Metanephric stromal tumor Adult BRAF V600E mutation PDGFRA mutation Small diameter tumor |
| title | Metanephric stromal tumor in an adult with PDGFRA mutation: a case report |
| title_full | Metanephric stromal tumor in an adult with PDGFRA mutation: a case report |
| title_fullStr | Metanephric stromal tumor in an adult with PDGFRA mutation: a case report |
| title_full_unstemmed | Metanephric stromal tumor in an adult with PDGFRA mutation: a case report |
| title_short | Metanephric stromal tumor in an adult with PDGFRA mutation: a case report |
| title_sort | metanephric stromal tumor in an adult with pdgfra mutation a case report |
| topic | Metanephric stromal tumor Adult BRAF V600E mutation PDGFRA mutation Small diameter tumor |
| url | https://doi.org/10.1186/s13000-023-01372-2 |
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