Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion in the elderly: case report and literature review

Abstract

A 68-year-old man was followed up with chronic kidney disease. Follow-up CT incidentally detected a tumor at the left kidney and multiple small nodular shadows in the lungs bilaterally. The patient underwent needle biopsy and was diagnosed with Xp11.2 translocation renal cell carcinoma (RCC) pathologically. Hence, laparoscopic nephrectomy was performed. Fluorescence in situ hybridization analysis revealed a break-apart of the transcription factor E3 (TFE3) genes in the left tumor. After 2 months postoperatively, nivolumab and ipilimumab were administered thrice intravenously, considering the intermediate risk by the IMDC risk classification. However, pleural effusion occurred but was removed adequately. Lung metastasis decreased, but new metastasis occurred at the left iliopsoas muscle. Target therapy was performed with axitinib. Unfortunately, he died 6 months later postoperatively. These tumors commonly occur in children than in adults, and very rare in elderly patients. Xp11.2 translocation RCC in the elderly has a poorer prognosis than that in children. To date, no effective treatment for Xp11.2 translocation RCC has been established.

Keywords: Fluorescence in situ hybridization; Xp11.2 translocational renal cell carcinoma.

Fig. 1

a Abdominal CT scan detected a solid mass (10 cm × 8 cm × 4 cm) at the right kidney (circle). b Chest CT revealed multiple small nodular shadows in the lungs bilaterally (circle). c Tumor diagnosis of whether renal cell carcinoma or renal pelvic cancer is difficult (circle)

Fig. 2

a Tumor cells were arranged in papillary formations and their cytoplasm was eosinophilic (hematoxylin and eosin staining, ×400). b Moderate-to-strong immunostaining intensity of TFE3 was found in the nuclei of tumor cells

Fig. 3

a Macroscopically, the tumor was a well-circumscribed solid mass that was necrotic and hemorrhagic. b The pathological specimen of the renal cell carcinoma showed an alveolar architecture with mixed patterns of papillary and eosinophilic cytoplasms (hematoxylin and eosin staining, ×40)

Fig. 4

Immunohistopathologically, all tumor cells showed a strong positive staining for CD10 and CK7, a partial positive staining for AMACR (a–c) and negative for Melan A (d)

Fig. 4

Immunohistopathologically, all tumor cells showed a strong positive staining for CD10 and CK7, a partial positive staining for AMACR (a–c) and negative for Melan A (d)

Fig. 5

The TFE 3 break-apart probe assay identified split signals and increased TFE3 copy numbers (arrow)