(ÚNKP-23–4-305) Támogató: New National Excellence Program
(Hetényi Géza Grant (Grant No. 5S 340 A202)) Támogató: SZTE
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.