Kidney Tumors

Xp11.2 Translocated renal cell carcinoma is common in children (about 1/3 of cases) and rare in adults. Most are already in the progressive stage when detected. No specific imaging features have been reported.

Xp11.2 translocation renal carcinoma is different from other general renal carcinomas in that it is insensitive to adjuvant therapy such as immunotherapy, radiotherapy, and chemotherapy, and clinical manifestations of perirenal lymph node metastasis are common. TFE3 protein is also highly expressed in this type, but its specificity is only 79%, and it is also highly expressed in tumors such as granulosa cell tumors, adrenocortical carcinoma, perivascular epithelioid tumors and high-grade mucinous fibrosarcoma.

Xp11 translocated renal cell carcinoma is diagnosed (more common in children), differentiated from clear cell renal carcinoma; if accompanied by papillary structures, it needs to be differentiated from papillary renal cell carcinoma, etc. Poor prognosis with sunitinib administration (60%-90%).

Tumors of vascular origin - bone origin

The YAP1-TFE3 fusion gene can also occur in epithelioid angioendotheliomas, which helps to differentiate this type of tumor from others. Tumor cells of this type are cytoplasmic, eosinophilic, and grow in nests or adenoidal vesicles, often with marked vascularization, and immunohistochemistry shows TFE3 positivity.

Tumors of undetermined differentiation and verrucous lesions

Xp11.2 translocation renal cell carcinoma, perivascular epithelioid cell tumor (PEComa), and epithelioid hemangioendothelioma as adjunctive diagnosis;

Skin-associated tumors that exhibit clear cell features: PEComa, distinctive cutaneous clear cell mesenchymal tumors, clear cell fibrous histiocytomas, clear cell AFX, clear cell sarcomas, ballooning cell/clear cell melanomas, clear cell squamous cell carcinoma, exocrine tumors, hair follicular tumors, metastatic carcinomas (especially renal).