Kamış Şule Çalışkan, Yağcı Begül, Koç Ayşe Selcan, Taş Zeynel Abidin
Department of Pediatric Hematology and Oncology, University of Health Sciences, Adana Faculty of Medicine, Adana City Education and Research Hospital, Adana, Türkiye.
Department of Radiology, University of Health Sciences, Adana Faculty of Medicine, Adana City Education and Research Hospital, Adana, Türkiye.
Front Pediatr. 2025 Apr 3;13:1539220. doi: 10.3389/fped.2025.1539220. eCollection 2025.
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.
后肾腺瘤（MA）是一种罕见的良性肾肿瘤，发病率为0.2%-1%。大约90%的MA病例存在BRAF V600E突变。本研究报告了一名8岁男性儿童，其腹痛1个月。腹部超声显示右肾有一个56×45mm的囊性坏死肿块。初步诊断为肾母细胞瘤（WT），随后开始术前长春新碱治疗。小儿外科进行了右肾输尿管切除术。组织病理学分析无法区分MA和WT。免疫组化结果显示WT1、泛细胞角蛋白（弱局灶性）、INI1（完整）、PAX8、CD56和CD57呈阳性。基因检测证实存在BRAF V600E突变（1799T＞A，1799_1800TG＞AA）。该患者被诊断为MA，未进行化疗随访。总之，MA可能被误诊为WT，在小儿肾肿瘤的鉴别诊断中应予以考虑。免疫组化评估和基因检测对于明确诊断至关重要。
