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Use of electron microscopy and other special techniques in the investigation of suspected specimen contamination
C W Zuppan1, D A Weeks, G D Wenger
1Department of Pathology, Loma Linda University, California, USA.
Abstract:
Contamination of a biopsy or surgical specimen with spurious tissue is an uncommon but potentially disastrous event. In this regard, the case of a 5-year-old boy referred for treatment of an abdominal tumor is presented. Sections made from paraffin blocks brought by the family showed both neuroblastoma and a spindle cell sarcoma, initially suggesting the possibility of divergent or mixed differentiation. However, the resemblance of the spindle cell component to well-differentiated leiomyosarcoma rather than rhabdomyosarcoma raised the suspicion that a specimen contamination had occurred. Electron microscopy was instrumental in confirming the smooth muscle nature of the sarcomatous component, leading to a fluorescence in situ hybridization study, which established that this component was incompatible with the patient's gender. This case illustrates that even when the light microscopic differential has been compromised by specimen mishandling, electron microscopy can at times provide useful information regarding specimen identity, as well as assist in sorting out the correct diagnosis.
Insights
Specimen contamination in pediatric cancer diagnosis can mislead doctors. Electron microscopy and genetic testing confirmed spurious tissue, ensuring accurate neuroblastoma treatment for a young boy.
Area of Science:
- Pathology
- Pediatric Oncology
- Surgical Complications
Background:
- Specimen contamination is a rare but serious diagnostic challenge.
- Accurate pathological diagnosis is crucial for effective pediatric cancer treatment.
Observation:
- A 5-year-old boy's abdominal tumor biopsy revealed both neuroblastoma and a spindle cell sarcoma.
- The spindle cell component's morphology suggested leiomyosarcoma, raising suspicion of contamination.
Findings:
- Electron microscopy confirmed the smooth muscle origin of the sarcomatous component.
- Fluorescence in situ hybridization (FISH) demonstrated the component's genetic incompatibility with the patient's gender, confirming contamination.
Implications:
- Electron microscopy is vital for resolving diagnostic discrepancies caused by specimen mishandling.
- This case highlights the importance of rigorous specimen verification in pediatric pathology.
- Accurate diagnosis, even with contamination, ensures appropriate and timely patient management.