Postoperative recurrence of adult renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion

Abstract

Objective To analyze the postoperative recurrence of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusion (Xp11.2 tRCC). Methods This retrospective study was approved by the institutional review board and performed in accordance with the ethical standards established by the institution. Demographic, clinical, pathological, and follow-up data were compiled for the study cohort. Results During a mean follow-up of 41.3 months (range, 3-104 months), 8 of 34 patients with Xp11.2 tRCC were confirmed to have recurrence. Three of these patients died with poor outcomes due to a vena cava tumor embolus, and one died of distant metastasis 48 months after the initial nephrectomy during which lymph node metastasis was found. Three patients survived after cytoreduction surgery. One patient was diagnosed with lung metastasis 11 months postoperatively. Conclusions The TNM classification provides significant prognostic information for Xp11.2 tRCC. A relatively active surveillance algorithm is recommended, and cytoreduction surgery is an effective approach for recurrent Xp11.2 tRCC. Larger studies are required to more extensively investigate the recurrence of these potentially aggressive tumors.

Keywords: RCC; TFE3; Xp11.2; recurrence.

Figure 1.

Typical histopathology of Xp11.2 tRCC, including abundant eosinophilic cytoplasm, distinct cell borders, and papillary architecture. (a) × 100. (b) × 200. (c) Strong nuclear positivity for TFE3 (×100). (d) TFE3 break-apart FISH assay characterized by separate red and green signals (red and green arrowheads) (×1000).

Figure 2.

Overall survival of patients with Xp11.2 tRCC.

Figure 3.

Progression-free survival of patients with Xp11.2 tRCC.

Figure 4.

A 45-year-old woman was diagnosed with recurrent Xp11.2 tRCC 12 months after open radical nephrectomy (red and green crossed lines). (a) Transaxial view of a lesion in the left abdominal cavity (maximum diameter = 5.0 cm, depicted by plain computed tomography). (b) Increased fluorodeoxyglucose uptake in the lesion (maximum standardized uptake value = 3.3, depicted by a fusion positron emission tomography/computed tomography image).