Clinical features and therapeutic experiences of renal cancer related to Xp11.2 translocation/TFE3 gene fusion: A case series of 18 patients

Background

This study aims to summarize the clinical features, imaging characteristics, and treatment outcomes of Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma (Xp11.2 tRCC), a rare and distinct subtype of kidney cancer.

Methods

A retrospective review was conducted on 18 patients diagnosed with Xp11.2 tRCC. Clinical presentations, imaging findings, treatment modalities, and follow-up data were systematically analyzed.

Results

Among the 18 patients, 10 had tumors in the left kidney and 8 in the right. Tumor sizes on CT ranged from 2.5 to 12.5 cm. Plain CT scan showed that 8 cases of tumors were round, 6 cases were mass-like, and 4 cases had irregular shapes. Fifteen tumors presented as solid masses, while 3 were cystic. On T1-weighted imaging (T1WI), 8 tumors showed iso- or slightly hypointense signals, and 10 were hyperintense. T2-weighted imaging (T2WI) revealed heterogeneous signal intensity in 12 tumors, while 3 appeared hypointense. Surgical resection was the primary treatment: 8 patients underwent radical nephrectomy and 9 underwent partial nephrectomy. One patient with metastatic disease at diagnosis received targeted therapy. Seventeen patients were followed up (median: 35 months); one was lost to follow-up. During the follow-up period, two patients developed metastatic disease. One experienced metastases to the liver and lumbar vertebrae, while the other presented with widespread systemic metastases. Both patients were referred to the oncology department of our institution for specialized treatment.

Conclusion

Xp11.2 tRCC is a rare subtype of renal cell carcinoma. The imaging findings associated with this condition possess distinct characteristics that can enhance the accuracy of preoperative diagnosis.