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The purpose of this article is to overview the clinical significance of left supraclavicular adenopathy and review the etiology of inferior vena cava (IVC) thrombosis, starting from a presentation of a rare case of renal cell carcinoma (RCCs) with Xp11.2 translocation involving TFE3 gene fusion. This article also aims to review the literature to understand the characteristics of this rare type of renal tumor.

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A rare autopsy case of malignant transcription factor E3 (TFE3)-rearranged perivascular epithelioid cell tumor (PEComa)-like neoplasm is presented. An 84-year-old woman manifested multiple cerebral infarctions and repetitive embolic events in the supra mesenchymal artery (SMA), and the presence of a mobile mass in the heart's left ventricle was also revealed. Tumoral lesions were also found in a pelvic space and a right pleural cavity, and a biopsy was performed from one of the disseminated tumor masses in the right pleura.

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Management of translocation carcinomas of the kidney.

Transl Cancer Res

November 2024

Department of Urology, James Buchanan Brady Urological Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.

Microphthalmia-associated transcription factor family translocation renal cell carcinoma (MiT-tRCC) stands out as a rare subtype of kidney cancer with distinct biological features compared to other kidney cancer subtypes. It encompasses TFE3-rearranged RCC (also known as Xp11 translocation RCC) and TFE-rearranged translocations RCC, although multiple new fusion partners were identified. Traditionally thought to primarily affect children and young adults, more cases of MiT-tRCC are being identified in adults.

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This report recounts the diagnostic workup of a pediatric female who presented with hematuria secondary to a large renal mass visualized on abdominal imaging. Histologic assessment and subsequent immunohistochemistry studies were performed. Intense, unequivocal immunohistochemical expression of TFE3 and alpha-methylacyl-CoA-racemase with corresponding negativity for carbonic anhydrase IX, along with highly distinctive clinical, radiologic, gross, and microscopic findings confirmed the diagnosis of a renal cell carcinoma with TFE3 gene rearrangement - the first ever reported case in the Philippines.

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Article Synopsis
  • This study investigates the characteristics of 10 rare primary renal perivascular epithelioid cell tumors (PEComas) that have a specific genetic alteration (Xp11.2 translocation), focusing on their presentation and outcomes.
  • The patient group included both genders aged 14-65, with positive outcomes for most after surgical treatment, and showed consistent expression of certain markers (TFE3 being the most significant) while lacking others typically seen in similar tumors.
  • The findings reveal the genetic variety among these tumors, with unique TFE3 fusion partners identified, and emphasize the importance of TFE3 immunohistochemistry for diagnosis and differentiation from other kidney cancers.
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