The Transition From Localized to Metastatic: A Case Report of Adult TFE3-Positive Xp11.2 Translocation Renal Cell Carcinoma

Xp11.2 translocation renal cell carcinoma (Xp11.2 RCC) is a rare tumor, occurring more frequently in childhood than in adulthood. It results from Xp11.2 chromosome translocations and the fusion of the transcription factor E3 (TFE3) gene. In this context, we present a case report of an 18-year-old female who was diagnosed with Xp11.2 RCC following open radical nephrectomy and lymph node dissection on the left side. The histopathological analysis indicated stage T3aN1Mx disease, which was confirmed through immunohistochemistry (IHC) and fluorescent in situ hybridization (FISH). The patient remained under observation until March 2023 when systemic scans uncovered the presence of ascites, peritoneal carcinomatosis, and left supraclavicular lymphadenopathy. A subsequent biopsy reaffirmed the primary disease, leading to the planning of systemic treatment involving tyrosine kinase inhibitors (TKIs) and immunotherapy. However, due to financial constraints, the patient's treatment options were limited to sunitinib initially. The current plan involves reevaluation after three months using scans to determine the subsequent course of treatment. Our case report offers crucial insights into the clinical presentation, diagnosis, and treatment of this rare malignancy. This enhances medical understanding, guides research, and improves the management of similar cases. Case reports like this share practical experiences, shaping future studies and patient care.