Mukendi Alain Mwamba, Mataruka Gerald Tatenda, Nadimpalli Ramesh, Kasapato Tshisola Miji
Thelle Mogoerane Regional Hospital, Division of Urology, Department of Surgery, University of the Witwatersrand, Johannesburg, South Africa.
Curr Urol. 2023 Mar;17(1):58-61. doi: 10.1097/CU9.0000000000000108. Epub 2022 Aug 2.
Microphthalmia-associated transcription factor family (transcription factor E3 or transcription factor EB) translocation renal cell carcinomas (RCCs) are rare neoplasms. These renal neoplasms can be either asymptomatic and incidentally discovered on imaging or symptomatic, with the most common presenting symptoms being hematuria, pain, and abdominal mass, or paraneoplastic event. In conventional RCCs, hypertension is considered a risk factor and a possible paraneoplastic event, whereas, in translocation RCCs, prior exposure to cytotoxic chemotherapy is the only known risk factor, and hypertension as an isolated associated paraneoplastic event has never been reported. Interestingly, hypertension as the only presenting symptom in RCC is extremely rare. We report a case of transcription factor E3 positive RCC in a young adult presenting only with hypertension that normalized after radical nephrectomy. To the best of our knowledge, this is the first reported case of hypertension secondary to microphthalmia-associated transcription translocation RCC.
小眼畸形相关转录因子家族（转录因子E3或转录因子EB）易位性肾细胞癌（RCC）是罕见的肿瘤。这些肾肿瘤可以无症状，在影像学检查时偶然发现，也可以有症状，最常见的症状是血尿、疼痛、腹部肿块或副肿瘤综合征。在传统肾细胞癌中，高血压被认为是一个危险因素和可能的副肿瘤综合征，而在易位性肾细胞癌中，既往接触细胞毒性化疗是唯一已知的危险因素，从未有高血压作为孤立的相关副肿瘤综合征的报道。有趣的是，高血压作为肾细胞癌唯一的症状极为罕见。我们报告一例年轻成人的转录因子E3阳性肾细胞癌，仅表现为高血压，根治性肾切除术后血压恢复正常。据我们所知，这是第一例小眼畸形相关转录易位性肾细胞癌继发高血压的报道病例。
