Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Case Report with Immunohistochemical and Cytological Features

Abstract

Gene fusions involving two of the MiT subfamily factors, such as TFE3, TFEB, TFC and MiTF, have been identified in renal cell carcinoma (RCC). Xp11.2 translocation RCC is a rare pediatric neoplasm that harbors gene fusions involving TFE3, which plays an important role in cell proliferation and survival. We herein present a case of RCC associated with Xp11.2 translocation/TFE3 gene fusion in a 14-year-old Japanese boy presenting gross hematuria and body weight loss. The tumor was characterized by histopathology, cytology and TFE3-immunohistochemistry/immunocytochemistry. Knowledge of distinctive morphological and immunostaining features of this tumor can help to accurately diagnose this rare subset of translocation associated RCC in routine pathological diagnostic procedures.

Cytological diagnosis of Xp11 translocation renal cell carcinoma: An unusual suspect in bone metastases from unknown primary malignancies

“…The cells usually show abundant cytoplasm with eosinophilic and granular to clear cytoplasm, central round nuclei with prominent nucleoli. Psammoma bodies are characteristics of Xp11 RCCs and they may be also observed on cytological sample 19 . The cell population was organized in large groups with variable architecture, from nests to gland‐like structures, up to papillary groups.…”

“…In the international literature the cytological features of Xp11.2 RCC are rarely reported. For cytological diagnosis different types of samples were used, such as touch‐imprint cytological material, 19‐22 catheterized urine cytology 23 and fine needle biopsy (25‐gauge needle) 24 through which the cytological characteristics of the primary tumor were described, and, in the case of metastatic lesions, CT‐guided FNAC 25,26 . In the last two cases the diagnosis of Xp11.2 RCC was performed during follow up after nephrectomy for clear cell RCC (ccRCC) as in our second case.…”

“…MiT family translocation RCCs are often negative for vimentin and under express cytokeratin and epithelial membrane antigen, anyway, the immunohistochemical staining pattern of Xp11 translocation RCC typically express PAX8, CD10, RCC 19 . Unlike other RCCs, MiT family translocation RCCs frequently express melanocytic markers such as HMB45 and Melan A 16 .…”

Unravelling the mysteries of Xp11.2 translocation‐associated renal cell carcinoma: A case report with a review of the literature

“…The cytological features of Xp11.2 TRCC have been documented sporadically in the literature in different cytological samples, including urine smears, effusion smears, imprint smears, and FNAs 11–13,17,20–28 . The FNA smears are usually cellular, with the tumour cells arranged in papillae and scattered singly.…”

“…14 The cytological features of Xp11.2 TRCC have been documented sporadically in the literature in different cytological samples, including urine smears, effusion smears, imprint smears, and FNAs. [11][12][13]17,[20][21][22][23][24][25][26][27][28] The FNA smears are usually cellular, with the tumour cells arranged in papillae and scattered singly. The tumour cells are round to polygonal in shape and show moderate pleomorphism with large round nuclei, finely granular chromatin, conspicuous nucleoli, and moderate to abundant amount of granular eosinophilic to pale vacuolated cytoplasm.…”