Yang Kaihang, Ma Yuhao, Dai Shuyang, Dong Rui
Department of Pediatric Surgery, Shanghai Key Laboratory of Birth Defect, Children's Hospital of Fudan University, Shanghai, China.
Front Pediatr. 2023 Jul 17;11:1141223. doi: 10.3389/fped.2023.1141223. eCollection 2023.
RCC accounts for only 0.1%-0.3% of all kidney tumors and 2%-6% of malignant kidney tumors in children. Accounting for approximately one-third of the total number of cases in children and adolescents with RCC, Xp11.2 tRCC is the most common subtype of the MiT family translocation renal cell carcinoma, which is a group of rare childhood and adult tumors, characterized by recurrent gene rearrangements of TFE3. Here we report a rare case of a 6-year-old male patient with MiT family translocation renal cell carcinoma (MiTF tRCC) where the patient developed retroperitoneal metastasis. The patient underwent partial nephrectomy (PN), radical nephrectomy (RN), abdominal lymph node resection, and intestinal adhesion lysis. Microscopically, we detected focal and nest clump-shaped clusters of tumor cells whose cytoplasm was bright and clear. Immunohistochemistry (IHC) showed tumor cells diffusely expressed TFE3, and fluorescence hybridization (FISH) demonstrated disruption of the TFE3 locus, confirming the diagnosis of Xp11.2 tRCC, the most common subtype of MiTF tRCC. Eventually, the patient obtained a good therapeutic result. This case can provide a good reference and guidance for pediatric urologists and oncologists to recognize and diagnose rare renal cell carcinoma in children.
肾细胞癌（RCC）仅占所有肾肿瘤的0.1%-0.3%，在儿童恶性肾肿瘤中占2%-6%。Xp11.2易位性肾细胞癌（tRCC）约占儿童和青少年RCC病例总数的三分之一，是MiT家族易位性肾细胞癌最常见的亚型，MiT家族易位性肾细胞癌是一组罕见的儿童和成人肿瘤，其特征是TFE3基因反复重排。在此，我们报告一例罕见的6岁男性MiT家族易位性肾细胞癌（MiTF tRCC）病例，该患者发生了腹膜后转移。患者接受了部分肾切除术（PN）、根治性肾切除术（RN）、腹部淋巴结切除术和肠粘连松解术。显微镜下，我们检测到肿瘤细胞呈局灶性和巢状团块状聚集，其细胞质明亮清晰。免疫组织化学（IHC）显示肿瘤细胞弥漫性表达TFE3，荧光原位杂交（FISH）显示TFE3基因座中断，证实诊断为Xp11.2 tRCC，即MiTF tRCC最常见的亚型。最终，患者获得了良好的治疗效果。该病例可为儿科泌尿科医生和肿瘤学家认识和诊断儿童罕见肾细胞癌提供良好的参考和指导。
