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Renal cell carcinoma with Xp11.2 translocation in a 7-year-old boy
C Jayasinghe1, N Siegler, I Leuschner
1Department of Paidopathology, Institute of Pathology, Medical Center, University of Bonn, Germany.
Insights
Pediatric renal cell carcinoma (RCC) is rare, often misdiagnosed as nephroblastoma. Early diagnosis via fine needle aspiration biopsy is crucial for effective treatment and improved prognosis in pediatric kidney cancer.
Area of Science:
- Pediatric oncology
- Nephrology
- Cancer genetics
Background:
- Nephroblastomas are the predominant pediatric renal tumors, comprising over 90% of cases.
- Renal cell carcinomas (RCC) are exceptionally rare in children, accounting for less than 5% of pediatric kidney tumors.
Observation:
- A 7-year-old boy diagnosed with stage IV nephroblastoma received neoadjuvant chemotherapy.
- Resected kidney revealed renal cell carcinoma with Xp11.2 translocation, despite initial misdiagnosis.
- Chemotherapy showed no tumor regression, leading to treatment cessation.
Findings:
- Fine needle aspiration biopsy (FNA) could have enabled precise tumor subtyping.
- Pediatric RCC with Xp11.2 translocation may have a more favorable prognosis than RCC without this translocation.
Implications:
- Accurate diagnostic methods like FNA are vital for tailoring pediatric kidney cancer treatment.
- Establishing a clinical diagnose-related register is necessary to confirm prognostic differences in pediatric RCC subtypes.
Background:
More than 90% of pediatric renal tumors are nephroblastomas while renal cell carcinomas (RCC) are rare in children (< 5%).
Patient:
According to the clinical diagnoses of a nephroblastoma stage IV a 7-year-old boy with a kidney tumor and peripheral pulmonary lesion was preoperatively treated for 8 weeks with Vincristine, Actinomycin D and Adriamycin. The resected kidney displayed a RCC with Xp11.2 translocation. There was no tumor regression and the pulmonary lesion was no longer detectable. Hence chemotherapy was put to a halt.
Conclusion:
Fine needle aspiration biopsy (FNA) would have allowed to adjust the tumor subtype. Prognosis of pediatric RCC with translocation seems more favourable than without translocation though definitive evidence will only be possible by documentation in a clinical diagnose-related register.
