14 Cases Of Xp11.2 Translocation/TFE3 Fusion-associated Renal Cell Carcinoma And Literature Review

Objective: Summarize the clinical characteristics of patients with Xp11.2 translocation/TFE3 gene fusion-associated renal cancer and provide clinical experience in the management of Xp11.2 translocation/TFE3 gene fusion-associated renal cancer.METHODS: Clinical data of patients with renal carcinoma diagnosed and treated at the First Hospital of China Medical University from January 2015 to December 2020 were screened for strong positive or diffuse expression of TFE3 protein in postoperative immunohistochemical test results,and a total of 18 patients with Xp11.2 translocation/TFE3 gene fusion-associated renal cancer were diagnosed,of whom 4 were excluded from the study due to postoperative immunohistochemical Weakly positive and partially positive.Results: A total of 14 patients with Xp11.2 translocation/TFE3 gene fusion-associated renal cancer who finally completed follow-up and obtained complete data.Four were male and 10 were female,aged 20-73 years,with a mean age of(48.07±16.20)years and a median age of 45 years.The tumour diameter was 2.70cm-9.25 cm,mean(6.01±2.48)cm,median diameter 5.90 cm.9 of the 14 patients(64.3%)were found on physical examination and 5 had clinical symptoms.Among them,4 cases(26.6%)had the first symptom of hematuria and 1 case(7.1%)had the first symptom of lumbar discomfort.Most of the tumours appeared as solid masses with regular shape and clear boundaries.The degree of enhancement in the medullary stage was significantly higher than that in the cortical stage,with a "progressive" enhancement pattern.All cases were treated surgically,with one person undergoing palliative transabdominal left nephrectomy and the remaining 13 undergoing radical surgery,including seven open surgeries and six minimally invasive laparoscopic surgeries.Postoperative pathological examination,the tumour tissues were observed microscopically: 5 tumour cells were arranged in a papillary pattern,6 tumour cells were arranged in a glandular vesicle pattern,2 tumour cells were arranged in irregular clusters and 1 tumour cell was arranged in a spindle pattern.Immunohistochemical tests were positive for TFE3,Vimentin,CD10,EMA,CK7,PAX-8,S-100,AMACR(P504S),CD34(vascular)and CD117 to varying degrees.One patient died 3 months after surgery due to tumour recurrence with multiple metastases,one patient died 4 months after surgery due to multiple metastases,and the remaining 12 patients recovered well after surgery with no obvious signs of tumour recurrence.Conclusion: The age of onset of Xp11.2 translocation/TFE3 fusion-associated renal cancer is lower than that of non-translocated renal cancer,and there is a significant gender difference in incidence,with women being more likely than men.The initial symptoms of carnivorous haematuria are more common than in conventional renal cancer and may be related to the anatomical features of the endogenous growth of the tumour,its proximity to the collecting system and its relatively central location.Partial nephrectomy is feasible in cases without distant metastases and with small lesions,but radical resection remains the treatment of choice.