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Hepatoblastoma in a mosaic trisomy 18 child with hemihypertrophy
Naveed Ahmad1, Kate Wheeler1, Helen Stewart2
1Department of Paediatric Oncology, University of Oxford Hospitals, NHS Trust, Oxford, UK.
Insights
This study reports a rare case of hepatoblastoma in a child with mosaic trisomy 18, a condition not previously documented with this specific cancer. The findings suggest that patients with trisomy 18 may tolerate intensive hepatoblastoma treatment well.
Area of Science:
- Genetics
- Pediatric Oncology
- Developmental Biology
Background:
- Trisomy 18 (Edwards syndrome) is a genetic disorder associated with developmental delays and increased cancer risk.
- Hepatoblastoma is a rare liver cancer primarily affecting young children.
- Previous reports link hepatoblastoma to trisomy 18, but cases involving mosaic trisomy 18 are scarce.
Observation:
- An 18-month-old child presented with hemihypertrophy and developmental delay.
- Surveillance ultrasound revealed hepatoblastoma.
- Diagnosis of mosaic trisomy 18 was confirmed through array comparative genomic hybridization and tumor specimen analysis.
Findings:
- This is the first reported case of hepatoblastoma in a patient with mosaic trisomy 18 and hemihypertrophy.
- Review of existing literature indicates that trisomy 18 patients without significant comorbidities tolerate intensive hepatoblastoma treatment effectively.
- Mosaic trisomy 18, characterized by the presence of both normal and extra chromosome 18 cells, presents unique clinical considerations.
Implications:
- This case expands the known spectrum of clinical manifestations in mosaic trisomy 18.
- Highlights the importance of surveillance for hepatoblastoma in children with trisomy 18, including mosaic forms.
- Suggests potential for successful treatment outcomes in this patient population with careful management of comorbidities.
Abstract:
To date, there are 12 reported cases of hepatoblastoma in trisomy 18 patients, three of whom had a mosaic chromosome pattern. We report on an 18-month-old child who had hemihypertrophy and developmental delay, was found to have hepatoblastoma on surveillance ultrasound scan, and was subsequently diagnosed with mosaic trisomy 18 on array comparative genomic hybridisation from a peripheral blood sample and molecular cytogenetic analysis of the tumour specimen. Although hemihypertrophy has been associated with mosaic trisomies, there are only a couple of published case reports of hemihypertrophy or asymmetry in mosaic trisomy 18 patients and none in the reported cases of hepatoblastoma in a mosaic trisomy 18 setting. We have reviewed the published case reports of hepatoblastoma in trisomy 18 patients and found that they seem to tolerate the intensive treatment very well if there are no significant comorbidities.
