PDF(Pubmed)
Abstract：
UNASSIGNED: Renal cell carcinoma (RCC) with TFE3 gene fusion caused by Xp11.2 translocations is a rare RCC subtype. This tumor is typically seen in children, comprising 20‒40% of overall RCC cases compared to 1‒1.6% observed in adults. Xp11.2 RCC is associated with a poor prognosis due to both the progression of local lesions and early distant and lymphatic metastasis.
UNASSIGNED: A case of RCC with Xp11.2 RCC translocations and TFE3 gene fusion was found in a pediatric patient, illustrating the catastrophic effects of ignoring the condition. The tumor developed from a local lesion to lymph metastasis (3.2-12 cm) within 4 years. Despite ongoing controversy, surgical resection remains the most common and productive approach. In this patient, renal retroperitoneal lymph node dissection and radical nephrectomy of the left kidney were performed via laparoscopic surgery. The RCC-associated Xp11.2 translocation/TFE3 gene fusions were identified by postoperative pathology. Microscopic analysis showed the presence of intravascular cancer thrombus, renal sinus invasion, and cancer necrosis. The pathological stages were confirmed as PT3aN1M0 with a negative margin. Follow-up at 5 months showed that the patient recovered without the use of any adjuvant treatments.
UNASSIGNED: Our study highlights the natural course, diagnosis, and treatment of RCC-associated Xp11.2 translocation/TFE3 gene fusions, especially the necessity of early surgery. This case may be a helpful reference for urologists in the treatment of similar cases. It also serves as a precautionary signal for patients who neglect the renal neoplasm.
UNASSIGNED: A case of RCC with Xp11.2 RCC translocations and TFE3 gene fusion was found in a pediatric patient, illustrating the catastrophic effects of ignoring the condition. The tumor developed from a local lesion to lymph metastasis (3.2-12 cm) within 4 years. Despite ongoing controversy, surgical resection remains the most common and productive approach. In this patient, renal retroperitoneal lymph node dissection and radical nephrectomy of the left kidney were performed via laparoscopic surgery. The RCC-associated Xp11.2 translocation/TFE3 gene fusions were identified by postoperative pathology. Microscopic analysis showed the presence of intravascular cancer thrombus, renal sinus invasion, and cancer necrosis. The pathological stages were confirmed as PT3aN1M0 with a negative margin. Follow-up at 5 months showed that the patient recovered without the use of any adjuvant treatments.
UNASSIGNED: Our study highlights the natural course, diagnosis, and treatment of RCC-associated Xp11.2 translocation/TFE3 gene fusions, especially the necessity of early surgery. This case may be a helpful reference for urologists in the treatment of similar cases. It also serves as a precautionary signal for patients who neglect the renal neoplasm.
摘要：
■由Xp11.2易位引起的TFE3基因融合的肾细胞癌（RCC）是一种罕见的RCC亚型。这种肿瘤通常见于儿童，占全部RCC病例的20-40%，而成人为1-1.6%。Xp11.2由于局部病变的进展以及早期的远处和淋巴转移，RCC与不良预后有关。
■在一名儿科患者中发现患有Xp11.2RCC易位和TFE3基因融合的RCC病例，说明了忽视这种情况的灾难性影响。肿瘤在4年内从局部病变发展为淋巴转移（3.2-12cm）。尽管争议不断,手术切除仍然是最常见和最有成效的方法。在这个病人身上,通过腹腔镜手术进行肾腹膜后淋巴结清扫和左肾根治性肾切除术。术后病理鉴定RCC相关Xp11.2易位/TFE3基因融合。显微镜分析显示存在血管内癌血栓，肾窦侵犯,和癌症坏死。病理分期证实为PT3aN1M0，切缘阴性。在5个月时的随访显示,患者在没有使用任何辅助治疗的情况下恢复。
■我们的研究突出了自然过程，诊断,和治疗RCC相关的Xp11.2易位/TFE3基因融合，尤其是早期手术的必要性。该病例可能为泌尿科医师治疗类似病例提供有益参考。对于忽略肾脏肿瘤的患者，它也可以作为预防信号。
■在一名儿科患者中发现患有Xp11.2RCC易位和TFE3基因融合的RCC病例，说明了忽视这种情况的灾难性影响。肿瘤在4年内从局部病变发展为淋巴转移（3.2-12cm）。尽管争议不断,手术切除仍然是最常见和最有成效的方法。在这个病人身上,通过腹腔镜手术进行肾腹膜后淋巴结清扫和左肾根治性肾切除术。术后病理鉴定RCC相关Xp11.2易位/TFE3基因融合。显微镜分析显示存在血管内癌血栓，肾窦侵犯,和癌症坏死。病理分期证实为PT3aN1M0，切缘阴性。在5个月时的随访显示,患者在没有使用任何辅助治疗的情况下恢复。
■我们的研究突出了自然过程，诊断,和治疗RCC相关的Xp11.2易位/TFE3基因融合，尤其是早期手术的必要性。该病例可能为泌尿科医师治疗类似病例提供有益参考。对于忽略肾脏肿瘤的患者，它也可以作为预防信号。
