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Primitive neuroectodermal tumor (PNET) in the differential diagnosis of malignant kidney tumors
Nicolaus Friedrichs1, Roland Vorreuther, Christopher Poremba
1Department of Pathology, Universitiy of Bonn, Germany. Nicolaus.Friedrichs@ukb.uni-bonne.de
Abstract:
Primitive neuroectodermal tumors (PNETs) of the kidney, a rare neoplastic disease of high malignancy with a tendency towards early metastasis, affect young adults (26-30 years) irrespective of the gender. Differential diagnosis from other renal tumors is very important for an effective therapy. Herein, we report on a 24-year-old male patient with a renal tumor consisting of small, round cells, and summarize the diagnostic procedures that establish the diagnosis of PNET. Light microscopy revealed not only areas containing small, round cells forming rosettes and pseudorosettes, but also areas containing spindle cells. Expression of CD 99 in combination with neural markers, such as NSE, was detected by immunohistochemistry, and further evidence of neural differentiation was provided by electron microscopy. Image cytometry revealed a peridiploid DNA-stemline. A reciprocal translocation of the chromosomes 11 and 22 [t(11;22)(q24;q12)] with expression of a EWS/FLI-1 fusion transcript was demonstrated by molecular pathology. Using these methods, the diagnosis of PNET was firmly established, and the tumor was treated by surgical resection and subsequent adjuvant chemotherapy. Eighteen months after therapy, the patient is in excellent health condition without any evidence of tumor recurrence.
Insights
This case report details a rare kidney Primitive Neuroectodermal Tumor (PNET) in a young adult. Comprehensive diagnostic methods confirmed the PNET, enabling effective treatment and a positive outcome.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Primitive Neuroectodermal Tumors (PNETs) are rare, highly malignant kidney neoplasms affecting young adults.
- Accurate differential diagnosis is crucial for effective treatment strategies.
Observation:
- A 24-year-old male presented with a renal tumor characterized by small, round cells, rosettes, and spindle cells.
- Histopathology revealed neural differentiation markers (CD 99, NSE) and a characteristic t(11;22) chromosomal translocation.
- Image cytometry indicated a peridiploid DNA stemline.
Findings:
- Molecular pathology confirmed the EWS/FLI-1 fusion transcript, diagnostic of PNET.
- Multimodal diagnostic approaches including light microscopy, immunohistochemistry, electron microscopy, image cytometry, and molecular pathology were employed.
- The patient underwent successful surgical resection and adjuvant chemotherapy.
Implications:
- This case highlights the importance of integrated diagnostic techniques for accurate PNET diagnosis.
- Successful treatment led to a favorable prognosis with no evidence of recurrence 18 months post-therapy.
- Early detection and comprehensive characterization are key for managing this aggressive renal tumor.