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MiT family translocation renal cell carcinoma in an elderly male
1Department of Pathology, Dharamshila Narayana Superspeciality Hospital, New Delhi, India.
Abstract:
Translocation-associated renal cell carcinoma (t-RCC) is a relatively uncommon subtype of renal cell carcinoma characterized by recurrent gene rearrangements involving the TFE3 or TFEB loci. TFE3 and TFEB are members of the microphthalmia transcription factor (MiT) family, which regulate differentiation in melanocytes and osteoclasts. Renal cell carcinomas (RCCs) associated with Xp11 translocations have gene fusions involving TFE3, which has multiple gene partners; RCCs with t(6:11) translocations have MALAT1-TFEB gene fusions. These tumors are histologically diverse, often have papillary, alveolar, and nested growth pattern with clear and eosinophilic cells and psammoma bodies and are seen commonly in children and young adults, accounting to 40% of pediatric RCCs and 1.6%-4% of adult RCCs. The mean and median patient age is 31 years. Thus, distinguishing t-RCC from its morphologic, immunophenotypic, and molecular mimics has important clinical implications. Directed ancillary testing is an essential aspect to t-RCC cases and may include a panel of immunohistochemical stains, such as PAX8, pancytokeratins, AMACR, CD10, and TFE-3. We, hereby report a case of TFE3 positiveXp11 translocation renal cell carcinoma in a 52-year-old male which is unusual.
Insights
Translocation-associated renal cell carcinoma (t-RCC) involves gene rearrangements of TFE3 or TFEB. This report details an unusual case of TFE3-positive Xp11 translocation renal cell carcinoma in a 52-year-old male.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Translocation-associated renal cell carcinoma (t-RCC) is a rare kidney cancer subtype defined by TFE3/TFEB gene rearrangements.
- TFE3/TFEB are microphthalmia transcription factors crucial for cell differentiation.
- t-RCCs, including Xp11 and t(6;11) types, exhibit diverse histology and are more prevalent in pediatric populations.
Observation:
- The study presents a rare case of TFE3-positive Xp11 translocation renal cell carcinoma.
- This specific t-RCC occurred in a 52-year-old male, an atypical demographic given the typical age range.
Findings:
- Histological features of t-RCC include papillary, alveolar, or nested growth patterns with specific cell types and psammoma bodies.
- Immunohistochemical stains like PAX8, AMACR, and TFE3 are vital for diagnosis.
- The case highlights the importance of considering t-RCC in adult patients, despite its rarity.
Implications:
- Accurate diagnosis of t-RCC is critical due to its distinct clinical behavior and treatment considerations.
- Ancillary testing, including molecular analysis and specific immunohistochemistry, is essential for differentiating t-RCC from mimics.
- This case underscores the need for vigilance in diagnosing t-RCC across all age groups.
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