Translocation Renal Cell Carcinoma t(6;11)(p21;q12) and Sickle Cell Anemia: First Report and Review of the Literature
A 27-year-old woman from the French West Indies who was followed at Pointe-a-Pitre University Hospital for a sickle cell anemia was referred for a left renal tumor. She had a personal history of cholecystectomy and acute thoracic syndrome.\nA left renal mass issuing from the renal sinus was discovered incidentally on an abdominal ultrasound performed for the patient's annual sickle cell anemia checkup. The clinical examination revealed a weight loss of 3 kilograms. There was no hematuria, no flank pain, no asthenia, and no lumbar contact (ECOG=0).\nA computed tomography (CT) scan confirmed a left renal tumor of 34 mm×86 mm, which seemed to develop from the renal medulla, that was heterogeneously enhanced with contrast agent () and several perihilar adenopathy (the largest being 17 mm). Thoracic CT scan revealed no metastasis.\nA left laparoscopic radical nephrectomy was performed after specific preoperative care for sickle cell disease: exchange transfusion for hemoglobin S <40%, hyperhydration, chest physiotherapy, and prevention against acidosis and hypothermia. There were no postoperative complications.\nFinal pathological examination showed a 60-mm well-defined medio-renal tumor with a brownish-red appearance. The 11 removed lymph nodes were negative. Microscopically, the tumor showed biphasic growth patterns consisting of nests of eosinophilic and clear cells (). Immunohistochemical analysis was performed, using a panel of antibodies including CD10, RCC marker, vimentin, α-methylacyl-coenzyme A racemase (p504s), human melanoma black 45 (HMB45), microphthalmia transcription factor (MiTF), TFE3, and TFEB. The tumor cells revealed diffuse nuclear TFEB staining, demonstrating a translocation RCC t(6;11)(p21;q12). They were also positive for vimentin, p504s, and HMB45 but in less than 10% of tumor cells. This tumor was classified as stage pT1bN0M0 Fuhrman grade 2.\nTwelve months after the surgery, the patient was in excellent condition and no recurrence was noticed on the CT scan.