Clinicopathologic, treatment and prognosis study of 46 Xp11.2 translocation/TFE3 gene fusion renal cell carcinomas

Abstract

Purpose: To report the clinicopathological features and mid- to long-term oncologic results of Xp11.2 translocation/transcription factor E3 (TFE3) gene fusion renal cell carcinomas (Xp11.2 translocation RCCs) in a single large-volume centrecentre.

Methods: Clinical and follow-up data of 46 patients who were diagnosed with Xp11.2 translocation RCC and underwentunderwent surgical intervention were retrospectively reviewed.

Result: Forty-six Xp11.2 translocation RCC patients were identified from 4218 renal tumour patients who were underwentunderwent surgery in our centrecentre from Jan. 2014 to Apr. 2020. The incidence of Xp11.2 translocation RCCs in our centre was 1.09%. During a median follow-up period of 30.5 months, 4 patients died of the disease. The total median overall survival and cancer specific survival were 30.0 months and 24.0 months, respectively. The 1-year, 3-year and 5-year OS rates were 97.4%, 88.8%, and 88.8%, respectively. In multivariable analysis, displaying symptoms when diagnosed (p = 0.019), lymph node metastasis (p = 0.002) and distal metastasis (p = 0.020) were identified as risk factors for poor prognosis.

Conclusion: Xp11.2 translocation RCC is a type of renal cell carcinoma with a relatively low incidence and various prognoses. Early-stage Xp11.2 translocation RCCs have a similar prognosis to most typical RCCs, but late-stage Xp11.2 translocation RCCs can lead to poor oncological outcomes.

Keywords: RCC; TFE3 gene; Translocational renal cell carcinoma; Xp11.2.

Fig. 1

The gross appearance of typical Xp11.2 translocation RCC. A The tumour arose in the renal cortex with a yellowish cut surface with haemorrhage. B The tumour was well circumscribed and solid. The cut surface showed a light brown colour with necrosis

Fig. 2

Representative pathologic image of Xp11.2 translocation RCC. A Tumour composed of clear and eosinophilic cells with psammoma bodies. B A neoplasm with a tubular and papillary structures. C Tumour cells with clear cytoplasm formed tubules with abundant psammoma bodies resembling a clear cell renal cell carcinoma. D Diffuse nuclear staining was detected. E The nucleus showed diffuse, strong staining for TFE3. F The demonstration of TFE3 gene rearrangement by FISH. One fused signal (yellow arrow) and two split signals (green and red arrow). (A–C Magnification: × 40; D–E Magnification: × 100; F: Magnification: × 1000)