错误:搜索内容不能为空,请输入英文关键词
错误:关键词超出字数限制,请精简
高级检索

Pediatric thyroid-like follicular renal cell carcinoma—a post-neuroblastoma case with comprehensive genomic profiling data

  • Richárd Kiss,
  • Tamás Micsik,
  • Gábor Bedics,
  • Gergő Papp,
  • Monika Csóka,
  • Zoltán Jenővári,
  • Sándor Szabó,
  • Tamás Tornóczki,
  • Gordan Vujanic,
  • Levente Kuthi

摘要

Thyroid-like follicular renal cell carcinoma (TLFRCC), an emerging subtype of renal cell carcinoma, presents diagnostic challenges due to its resemblance to normal thyroid tissue. Here, we report a rare case of TLFRCC in a pediatric patient, a demographic rarely affected by this subtype. Histologically resembling a typical TLFRCC, our case exhibited unique features including post-neuroblastoma development, occurrence in a male teenager, and diffuse MelanA expression, which has not been previously reported in TLFRCC. Comprehensive genomic profiling revealed the EWSR1::PATZ1 fusion, confirming its genetic basis. Due to the advanced tumor stage, the patient received combined immunotherapy, and after a 9-month follow-up, remains tumor-free. Our case broadens the diagnostic spectrum of pediatric renal cell carcinomas, highlighting the importance of comprehensive molecular profiling in rare subtypes such as TLFRCC. Further research is needed to better understand TLFRCC’s genetic landscape and optimize therapeutic strategies, especially in pediatric populations with evolving treatment protocols.