Case Report: TFE3 Positive Xp11.2 Translocation Renal Cell Carcinoma (TRCC) – A Case Study and Review of the Literature

Abstract

Microphthalmia-associated transcription factor renal cell cancer, also known as translocation renal cell cancer, belongs to the group of extremely rare non-clear-cell kidney neoplasms. Their incidence is lower in adulthood than in childhood. The only known risk factor for the development of this tumor is prior chemotherapy. In the operable stage of the disease, the prognosis depends on the status of regional lymph nodes. Interestingly lymph node positivity worsens the prognosis only in the adult patient population. Radical surgical excision is the best therapy in the early stage. The optimal treatment strategy for locally advanced and metastatic disease has not been established, given the lack of evidence in such a rare disease. We present the case of a patient with an aggressive course of this neoplasm treated with temsirolimus, who achieved 10-month control of this neoplasm accompanied by a discussion on other therapeutic possibilities.

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

“…Patients with lymph node involvement at initial presentation are more frequent in children (58.8%) than in adults (28.8%). Surprisingly, it is associated with a poorer prognosis in the adult population, including shorter progression-free survival and overall survival compared to their pediatric counterpart [ 12 ].…”

“…About 20-40% of pediatric RCCs, mainly Xp11.2 translocation, affect children, while only 1-1.6% affect adults [ 12 ]. As the prevalence of RCC has increased, the incidence of Xp11.2 translocation is relatively more common in adults.…”

“…Xp11.2 RCC normally presents at an advanced stage and with an aggressive clinical course and poor prognosis in adults [ 14 ]. The mean survival rate of up to two years in adults while up to 6.3 years in pediatric patients was reported by Srigley et al Moreover, 15% of adult patients with Xp11.2 RCC have a history of previous chemotherapy use [ 12 ]. Hence, the possible role of previous chemotherapy as a causative etiology of Xp11 translocation RCC is to be confirmed [ 12 ].…”

“…Moreover, targeted agents, such as sunitinib, sorafenib, and everolimus, were applied [ 19 ]. Recent data showed the benefit of a combination of immunotherapy with multi-TKIs, including MET inhibitors, in non-clear cell metastatic RCC [ 12 ]. However, data regarding adjuvant treatment, including immunotherapy, is still under investigation, and no standardized adjuvant treatment has yet been established, despite its poor prognosis [ 12 ].…”

Multimodality imaging of Xp11.2 translocation/TFE3 gene fusion associated with renal cell carcinoma: a case report

“…The treatment for Xp11.2 RCC remains ill-defined. Radical surgical excision stands as the primary therapy for early-stage cases (46)(47)(48). Regarding adjuvant treatment, there is still no research elucidating the most optimal or reliable approach for individual patients (49,50).…”