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Persistence and possible progression of a pelvic neuroblastoma detected by mass screening during 19 months
M L Bernstein1, E M Azouz, W Woods
1Department of Pediatrics, McGill University, Montreal, Quebec, Canada.
Insights
Early detection of neuroblastoma through urinary catecholamine screening is crucial. This case highlights a delayed diagnosis due to misidentification of a pelvic mass, emphasizing the need for vigilance even with favorable screening results.
Area of Science:
- Pediatric Oncology
- Molecular Diagnostics
- Cancer Screening
Background:
- Mass screening for neuroblastoma often identifies early-stage, favorable disease through elevated urinary catecholamines.
- Treatment intensity for such cases remains a subject of debate.
- This report details a case with diagnostic challenges and unfavorable features.
Observation:
- A 2-month-old infant presented with elevated urinary catecholamines, initially lacking a detectable mass.
- A pelvic mass, initially misdiagnosed as a fecaloma, was eventually identified and resected after 19 months.
- Histological analysis revealed neuroblastoma with unfavorable Shimada features, despite a near-triploid karyotype and unamplified N-myc.
Findings:
- The neuroblastoma case presented with persistently rising urinary catecholamines and unfavorable histology.
- Delayed diagnosis was attributed to the tumor's unusual pelvic location and initial misinterpretation as a fecaloma.
- Despite diagnostic delays and unfavorable features, the child responded well to chemotherapy.
Implications:
- This case underscores the importance of continued monitoring of urinary catecholamines, even when a mass is not initially apparent.
- It highlights potential pitfalls in neuroblastoma diagnosis, particularly with atypical presentations.
- Further research is needed to optimize treatment strategies for neuroblastomas detected via screening, considering varying biological behaviors.
Purpose:
The preclinical detection of neuroblastoma by screening for elevated levels of urinary catecholamines often leads to the discovery of children with early-stage, biologically favorable disease. It is uncertain how vigorously therapy must be pursued in such cases. We report an infant whose pelvic mass was initially thought to be a fecaloma, and consequently was not treated for 19 months.
Case Report:
A 2-month-old girl was referred for evaluation for the presence of a neuroblastoma because of elevated urinary catecholamines detected in a mass screening program. Although no mass was initially found, urinary catecholamines became increasingly elevated, and a pelvic mass was finally radiologically identified. It was resected. Histology showed it to be a neuroblastoma, POG stage C, International stage 3, with unfavorable Shimada features, although near triploid with an unamplified N-myc oncogene. Chemotherapy was given for five cycles, and the child remains well, with no evidence of disease.
Conclusion:
Although mass screening programs often detect early- stage, biologically favorable neuroblastomas that may spontaneously regress, our case had rising levels of urinary catecholamines and unfavorable histologic features at the time of resection. The unusual location of the tumor, and radiologic features of a fecaloma, contributed to the delay in definitive diagnosis, although persistence of elevated urinary catecholamines in the absence of a tumor is infrequent.