The preliminary experiences of translocation renal cell carcinoma and literature review

Abstract

Xp11.2 translocation renal cell carcinoma (RCC) is rare and predominantly found in children and young adults. Because of the property of overexpressed transcription factor E3 (TFE3) fusion protein, immunohistochemical (IHC) staining with TFE3 antibody makes an excellent diagnostic tool. This study analyzed preliminary experiences of eight Xp11.2 translocation RCCs in our institution between 2007 and 2012. In four males and four females with a mean age of 28.4 years. Xp11.2 translocation RCCs were diagnosed. TFE3 IHC stain was positive in all tumor specimens. As the initial presentation, four patients suffered from abdominal pain, three cases had gross hematuria, and one case had hemoptysis caused by existing lung metastasis. The tumor was located in the right kidney (75%) with mean diameter of 5.85 ± 2.64 cm. Three cases (38%, 3/8) presented with lymph node metastasis at the time of diagnosis. In five cases (63%, 5/8), the initial diagnosis was Stage III and IV. Treatment included open surgery (one partial nephrectomy and five radical nephrectomies), cryoablation, immunotherapy, and target therapy. The mean follow-up time was 32 months. One patient died after 23.4 months of follow-up. The application of TFE3 IHC stain will improve the diagnostic accuracy for detecting XP11.2 translocation renal cell carcinoma. Surgery or cryoablation both had excellent prognosis in early stages. Although the disease is believed to be indolent, an increasingly aggressive clinical course should be kept in mind, especially for children and young adults.

Keywords: Immunohistochemistry; Renal cell carcinoma; TFE3 transcription factor; Xp11.2 translocation.

Figure 1

(A) Hematoxylin‐eosin stain showing compact papillary and nested architecture with voluminous clear to eosinophilic cytoplasm (magnification ×250). (B) Nuclear strong labeling for immunohistochemical TFE3 stain (magnification ×250).