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Association of trisomy 18 with hepatoblastoma and its implications
Zhen Han Tan1, Angeline Lai, Ching Kit Chen
1Department of Pediatric Medicine, KK Women's and Children's, Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore, tan.zhen.han@kkh.com.sg.
Insights
Hepatoblastoma, a rare infant liver cancer, may be non-randomly associated with Trisomy 18. Surgical resection proved effective for two early-stage Trisomy 18 hepatoblastoma cases.
Area of Science:
- Pediatric Oncology
- Clinical Genetics
- Cancer Research
Background:
- Hepatoblastoma is a rare, highly malignant embryonic liver tumor predominantly affecting infants and toddlers.
- Trisomy 18 (Edwards syndrome) is a common autosomal trisomy, typically associated with a lethal prognosis.
- Existing literature details only ten cases of hepatoblastoma in children with Trisomy 18.
Observation:
- This report details two female infants diagnosed with Trisomy 18 and stage 1 hepatoblastoma (using the PRETEXT staging system).
- Both patients presented with early-stage disease and underwent primary surgical resection without neoadjuvant or adjuvant chemotherapy.
- Histopathological examination revealed pure fetal epithelial and combined fetal and embryonal epithelial types.
Findings:
- The findings suggest a potential non-random association between hepatoblastoma and Trisomy 18.
- Both patients achieved complete remission with no evidence of recurrence on serial follow-up, including abdominal ultrasound and alpha-fetoprotein monitoring.
- Primary surgical resection was a successful treatment modality for these specific cases.
Implications:
- The successful surgical management of these two cases indicates that primary resection is a viable treatment option for select children with Trisomy 18 and stage 1 hepatoblastoma.
- The decision-making process for treatment in Trisomy 18 patients requires careful individualization due to the condition's generally poor prognosis.
- Further research is warranted to elucidate the potential non-random association and optimize treatment strategies for hepatoblastoma in the context of Trisomy 18.
Unlabelled:
Hepatoblastoma is a highly malignant embryonal liver tumor that occurs almost exclusively in infants and toddlers. Trisomy 18 is the second most common autosomal trisomy after trisomy 21 and is generally considered a lethal disorder. Ten cases of hepatoblastoma in children with trisomy 18 have been published to date. Here, we report on two female patients with trisomy 18 and pretreatment extent of disease (PRETEXT) stage 1 hepatoblastoma, which support the presence of a nonrandom association between hepatoblastoma and trisomy 18. Both patients underwent primary surgical resection without any neoadjuvant or adjuvant chemotherapy. The histologies returned as pure fetal epithelial type, and combined fetal and embryonal epithelial type. There was no evidence of recurrence on serial abdominal ultrasound and serum alpha-fetoprotein levels on follow-up.
Conclusion:
Primary surgical resection is a treatment approach that can be considered in children with trisomy 18 and PRETEXT stage 1 tumor. However, in view of the overall prognosis for trisomy 18, the decision on the optimal treatment is a delicate one and has to be individualized in the context of the best interests of the child.
