Rare Case of Renal Tumor: Carcinoma with Xp11 Translocation

Abstract

Adult renal cell carcinomas are divided into four types: clear cell carcinomas, papillary carcinomas and chromophobe carcinomas. Cytogenetic analysis has led to the discovery of a new variant of renal cell carcinoma, the "Xp11.2 translocation related carcinoma". The aim of this article is to report a rare case of renal cell carcinoma in our current practice with a review of the literature. The patient is 21 years old, with no particular pathological history. The history of the disease goes back to 5 years with the appearance of intermittent coagulant total hematuria without any other associated sign. Urogenital examination revealed lumbar tenderness with a positive left lumbar contact. A biological workup was requested showing an anemia of 6.5 g/dl, grouping: B+. A normal renal function with a creatinemia of 11 mg /l. A radiological workup (Uroscanner) was also requested, showing a large left renal tumor process occupying almost the entire kidney, estimated at 19.5*14*12.5 cm in the major axes. The patient underwent a transfusion of packed red blood cells and then an enlarged total nephrectomy with a pre aortic-cavity lymph node curage. Genetic examination is the reference diagnosis. It is requested in first intention to allow a decision to be made after an equivocal immunohistochemical examination. The evolution of renal tumor with Xp11.2 translocation is often negative in adults, with a high risk of lymph node metastasis. The evolution of our patient was marked by a good clinical and biological improvement with absence of low back pain, hematuria and normalization of the hemoglobin level. In conclusion, the carcinoma with translocation Xp11.2 is a rare form of renal tumor and the management is multidisciplinary involving the urology surgeon, the anatomopathologist and the oncologist. The therapeutic management must be early to improve the vital prognosis.