| 摘要: |
| 目的 探讨成人Xp11.2易位/转录因子E3基因融合相关性肾细胞癌（Xp11.2/TFE3 RCC）的临床表现、影像学表现与治疗效果。方法 收集2014年9月至2019年7月海军军医大学（第二军医大学）长海医院收治的经病理确诊的43例成人Xp11.2/TFE3 RCC患者的临床资料，对患者一般情况、临床症状、影像学资料、手术方式、病理资料及预后进行回顾性分析。结果 43例Xp11.2/TFE3 RCC患者中男24例、女19例，年龄25～77岁，平均年龄为（47.5±15.2）岁。首发症状为肉眼血尿5例，腰腹部不适6例，转移部位症状表现1例；健康体检时发现、无明显症状者31例。影像学上，病灶最大径1.1～9.5 cm，平均为（5.1±2.7）cm；病灶为类圆形29例，不规则形14例；边界清楚、有假包膜37例，边界不清晰6例；病变多出现密度或信号不均质改变，主要表现为出血（21例）、囊变或坏死（24例）及钙化（11例）；中度至明显强化30例，轻度强化13例，其中乳头状强化23例；肾周侵犯10例，远处转移8例。43例患者中15例行腹腔镜根治性肾切除术，13例行腹腔镜肾部分切除术，7例行智能臂辅助腹腔镜肾部分切除术，5例行开放根治性肾切除术，1例行开放肾局部切除术，1例行肾穿刺活检术，1例行转移性椎管肿瘤清除术。43例患者的TFE3免疫组织化学染色检测及3例患者的TFE3荧光原位杂交检测结果均为阳性；免疫组织化学染色检测结果显示碳酸酐酶Ⅸ（CAⅨ；74.4%，32/43）、亲和素-生物素-过氧化物酶复合物（ABC；93.0%，40/43）、CD10（93.0%，40/43）、希佩尔林道蛋白（VHL；72.1%，31/43）、低分子量细胞角蛋白（CAM5.2；83.7%，36/43）阳性表达率较高，Ki-67阳性率为1%～60%（平均为9.7%）。除6例失访外，其余37例患者术后随访11～68个月，平均（47.4±17.5）个月。随访期间5例患者出现肿瘤全身多发转移，其中3例死亡，2例使用靶向药物治疗后病情无明显进展、患者仍存活；1例患者术后出现复发。结论 Xp11.2/TFE3 RCC患者临床表现主要为血尿及腰腹部不适，健康体检时发现及无症状者较多，影像学表现多样，确诊依赖组织病理检测。外科手术尤其根治性肾切除术是Xp11.2/TFE3 RCC患者的首选治疗方法。大部分患者预后良好，少数患者术后出现复发或转移。 |
| 关键词: Xp11.2易位/转录因子E3基因融合相关性肾细胞癌 肾肿瘤 成年人 诊断 |
| DOI：10.16781/j.0258-879x.2021.01.0028 |
| 投稿时间：2020-06-08修订日期：2020-10-27 |
| 基金项目:国家自然科学基金面上项目（81871485）. |
|
| Clinical characteristics of adult patients with renal cell carcinoma associated with Xp11.2 translocation/transcription factor E3 gene fusion: a single-center study |
| TIAN Xia1△,WANG Jian2△,KANG Qin-qin1,BAI Chen-guang3,HAO Qiang1* |
(1. Department of Radiology, Changhai Hospital, Naval Medical University(Second Military Medical University), Shanghai 200433, China;
2. Department of Gastroenterology, Changzheng Hospital, Naval Medical University(Second Military Medical University), Shanghai 200003, China;
3. Department of Pathology, Changhai Hospital, Naval Medical University(Second Military Medical University), Shanghai 200433, China
△Co-first authors.
* Corresponding author) |
| Abstract: |
| Objective To explore the clinical features, imaging features and treatment outcomes of renal cell carcinoma associated with Xp11.2 translocation/transcription factor E3 gene fusion (Xp11.2/TFE3 RCC) in adult patients. Methods The clinical data of 43 adult patients with Xp11.2/TFE3 RCC confirmed by pathology from Sep. 2014 to Jul. 2019 in Changhai Hospital of Naval Medical University (Second Military Medical University) were collected. The general information, clinical symptoms, imaging data, surgical approaches, pathological data and prognosis of the patients were retrospectively analyzed. Results Among the 43 Xp11.2/TFE3 RCC cases, there were 24 males and 19 females, aged from 25 to 77 years, with an average age of (47.5±15.2) years. The main clinical manifestations included gross hematuria (five cases), lumbar and abdominal discomfort (six cases), and the symptom caused by tumor metastasis (one case); the other 31 cases were found during physical examination without obvious symptoms. The diameter of the tumor was 1.1-9.5 cm (average[5.1±2.7] cm). The lesions were round-like in 29 cases and irregular in 14 cases, and 37 cases had distinct borders and pseudocapsules around the tumors, six cases with poorly-defined borders. Most of the lesions showed heterogeneous changes in density or signal, mainly manifested as hemorrhage (21 cases), cystic degeneration or necrosis (24 cases) and calcification (11 cases). There were moderate to marked enhancement in 30 cases, mild enhancement in 13 cases, including papillary enhancement in 23 cases. Perirenal invasion appeared in 10 cases and distant metastases in eight cases. Among the 43 patients, 15 patients underwent laparoscopic radical nephrectomy, 13 patients underwent laparoscopic partial nephrectomy, seven patients underwent intelligent arm-assisted laparoscopic partial nephrectomy, five patients underwent open radical nephrectomy, one patient underwent open partial nephrectomy, one patient underwent renal biopsy, and one patient underwent resection of metastatic spinal canal tumor. The results of immunohistochemistry in 43 patients and fluorescence in situ hybridization in three patients were all positive for TFE3. High positive expression rates of carbonic anhydrase Ⅸ (CAⅨ; 74.4%, 32/43), avidin-biotin-peroxidase complex (ABC; 93.0%, 40/43), CD10 (93.0%, 40/43), von Hippel-Lindau (VHL; 72.1%, 31/43) and low-molecular-weight cytokeratin (CAM5.2; 83.7%, 36/43) were found through immunohistochemistry staining. The positive expression rate of Ki-67 ranged from 1% to 60%, with an average of 9.7%. Except for six patients who were lost to follow-up, the other 37 patients were followed up for 11-68 months, with an average of (47.4±17.5) months. During the follow-up period, five patients had multiple metastases, of which three patients died, and two patients had no significant progress after treatment with targeted drugs and were still alive; one patient had postoperative recurrence. Conclusion The main clinical manifestations of adult Xp11.2/TFE3 RCC patients are hematuria and umbar and abdominal discomfort. More patients are asymptomatic and found in physical examination. Imaging manifestations are diverse. The final confirmed diagnosis of Xp11.2/TFE3 RCC relies on pathological examination. Surgery, especially radical nephrectomy, is the first choice for Xp11.2/TFE3 RCC patients. Most patients have ideal prognosis, and a few patients have recurrence or metastasis after surgery. |
| Key words: renal cell carcinoma associated with Xp11.2 translocation/transcription factor E3 gene fusion kidney neoplasms adult diagnosis |
