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Isolated hemihyperplasia in an infant: an overlooked sign for wilms tumor development
Kamer Mutafoglu1, Emre Cecen, Handan Cakmakci
1Department of Pediatric Oncology, Dokuz Eylul University, Institute of Oncology, Izmir, Turkey.
Insights
Children with overgrowth syndromes like isolated hemihyperplasia face higher risks of embryonal tumors. Early tumor surveillance is crucial for these patients, especially those with Beckwith-Wiedemann syndrome.
Area of Science:
- Pediatric oncology
- Clinical genetics
Background:
- Overgrowth syndromes, including isolated hemihyperplasia, are associated with an elevated risk of embryonal tumors in children.
- Wilms tumor and hepatoblastoma are particularly common in affected children.
Observation:
- A case of an infant diagnosed with Wilms tumor is presented.
- The infant had isolated hemihyperplasia, which was previously missed by multiple physicians.
Findings:
- This case highlights the potential for underdiagnosis of isolated hemihyperplasia in children who later develop embryonal tumors.
- Early detection of tumors through surveillance may be critical.
Implications:
- Tumor surveillance is recommended for all patients diagnosed with Beckwith-Wiedemann syndrome and isolated hemihyperplasia.
- Surveillance should continue for at least the first six years of life due to the lack of readily available comprehensive molecular characterization for all patients.
Background:
Children with overgrowth syndromes including isolated hemihyperplasia have an increased risk for developing embryonal tumors, particularly Wilms' tumor and hepatoblastoma. Screening with sonography has been suggested as a method of identifying these tumors while they are still at an early stage.
Case Presentation:
We describe an infant diagnosed with Wilms tumor in whom isolated hemihyperplasia had been overlooked by several physicians prior to the tumor diagnosis.
Conclusion:
We recommend tumor surveillance for all patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia at least for the first six years of life since full molecular characterization of every patient is not readily available.
