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Metanephric adenoma in a pediatric patient case report
Şule Çalışkan Kamış1, Begül Yağcı1, Ayşe Selcan Koç2
1Department of Pediatric Hematology and Oncology, University of Health Sciences, Adana Faculty of Medicine, Adana City Education and Research Hospital, Adana, Türkiye.
Abstract:
Metanephric adenoma (MA) is a rare benign renal tumor, with an incidence of 0.2%-1%. Approximately 90% of MA cases present with the BRAF V600E mutation. This study reports an 8-year-old male child who presented with abdominal pain for one month. Abdominal ultrasound revealed a cystic necrotic mass measuring 56 × 45 mm in the right kidney. A preliminary diagnosis of Wilms tumor (WT) led to the initiation of preoperative vincristine therapy. Right nephroureterectomy was performed by pediatric surgery. Histopathological analysis could not differentiate between MA and WT. Immunohistochemical findings were positive for WT1, PANCK (weak focal), INI1 (intact), PAX8, CD56, and CD57. Genetic testing confirmed the presence of the BRAF V600E mutation (1799T > A, 1799_1800TG > AA). The patient was diagnosed with MA and was followed without chemotherapy. In conclusion, MA, which can be mistaken for WT, should be considered in the differential diagnosis of pediatric renal neoplasms. Immunohistochemical evaluation and genetic testing are essential for a definitive diagnosis.
Insights
Metanephric adenoma (MA) is a rare pediatric kidney tumor that can mimic Wilms tumor (WT). BRAF V600E mutation and specific markers aid in diagnosing MA, distinguishing it from WT.
Area of Science:
- Pediatric Oncology
- Nephropathology
- Molecular Diagnostics
Background:
- Metanephric adenoma (MA) is a rare benign renal neoplasm with low incidence.
- Approximately 90% of MA cases harbor the BRAF V600E mutation, a key diagnostic marker.
- Distinguishing MA from Wilms tumor (WT) is crucial for appropriate patient management.
Observation:
- An 8-year-old male presented with abdominal pain and a cystic necrotic right kidney mass.
- Initial diagnosis suggested Wilms tumor, leading to neoadjuvant vincristine therapy.
- Histopathology and immunohistochemistry showed overlapping features with WT.
Findings:
- Immunohistochemistry was positive for WT1, PANCK (weak focal), INI1 (intact), PAX8, CD56, and CD57.
- Genetic testing confirmed the presence of the BRAF V600E mutation.
- Definitive diagnosis was Metanephric Adenoma, treated with observation post-nephroureterectomy.
Implications:
- Metanephric adenoma should be considered in the differential diagnosis of pediatric renal tumors, especially those resembling Wilms tumor.
- Immunohistochemical evaluation and BRAF V600E mutation analysis are essential for accurate diagnosis.
- Accurate diagnosis of MA can prevent unnecessary chemotherapy, guiding treatment towards observation.
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