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

Kiss, Richárd [Kiss, Richárd (molekuláris onkoh...), author] Patológiai és Kísérleti Rákkutató Intézet (SU / FM / I); Micsik, Tamás* [Micsik, Tamás (Patológia), author] Patológiai és Kísérleti Rákkutató Intézet (SU / FM / I); Bedics, Gábor [Bedics, Gábor (Patológia), author] Patológiai és Kísérleti Rákkutató Intézet (SU / FM / I); Papp, Gergő [Papp, Gergő (Molekuláris biológia), author] Patológiai és Kísérleti Rákkutató Intézet (SU / FM / I); Csóka, Monika [Csóka, Monika (Gyermekgyógyászat...), author] Department of Pediatrics (SU / FM / C); Jenővári, Zoltán [Jenővári, Zoltán (gyermekgyógyászat...), author] Department of Pediatrics (SU / FM / C); Szabó, Sándor [Szabó, Sándor (Gyermekgyógyászat...), author] Department of Pediatrics (SU / FM / C); Tornóczki, Tamás [Tornóczky, Tamás (Pathológia), author] Department of Pathology (UP / UPMS); Vujanic, Gordan; Kuthi, Levente ✉ [Kuthi, Levente (Patológia), author] National Institute of Oncology; Patológiai és Kísérleti Rákkutató Intézet (SU / FM / I)

English Article (Journal Article) Scientific
Published: VIRCHOWS ARCHIV 0945-6317 1432-2307 485 (3) pp. 583-588 2024
  • SJR Scopus - Medicine (miscellaneous): Q1
Identifiers
Fundings:
  • (ÚNKP-23–4-305) Funder: New National Excellence Program
  • (Hetényi Géza Grant (Grant No. 5S 340 A202)) Funder: USZ
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.
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2025-04-25 06:42