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Multifocal hepatoblastoma in a 6-month-old girl with trisomy 18: a case report
Insights
Edward's syndrome (trisomy 18) is rare, and malignant tumors are seldom reported. This case highlights a significant association between trisomy 18 and hepatoblastoma, suggesting trisomy 18 may potentiate tumor development.
Area of Science:
- Genetics
- Pediatric Oncology
- Rare Diseases
Background:
- Edward's syndrome (trisomy 18) is a rare genetic disorder with a low survival rate.
- Malignant tumors are infrequently reported in children with trisomy 18.
- Hepatoblastoma is a rare childhood liver cancer.
Purpose of the Study:
- To report a rare case of multifocal hepatoblastoma in an infant with trisomy 18.
- To review existing literature on hepatoblastoma in trisomy 18 patients.
- To investigate the potential association between trisomy 18 and hepatoblastoma development.
Main Methods:
- Case report of a 6-month-old female infant with trisomy 18 and multifocal hepatoblastoma.
- Detailed presentation of the clinical course and autopsy findings.
- Comprehensive literature review of similar cases.
Main Results:
- This is the seventh reported case of hepatoblastoma in a patient with trisomy 18.
- All reported cases were female, possibly linked to sex-based survival differences in trisomy 18.
- The co-occurrence of these rare conditions suggests a significant association, not mere coincidence.
Conclusions:
- Trisomy 18 may potentiate the development of hepatoblastoma.
- Further research and careful studies are needed to determine the true frequency of hepatoblastoma in trisomy 18.
- Early recognition and investigation are crucial for affected children, even if they succumb to other complications.
Introduction:
Edward's syndrome (trisomy 18) is a rare entity with a reported incidence of 1/3000 to 1/7000 births. Less than 10% of patients survive beyond the first year of life, which may influence the fact that malignant tumors are rarely reported in association with this syndrome.
Case Presentation:
The authors report a rare case of a 6-month-old girl with trisomy 18 and multifocal hepatoblastoma. The course of the disease, autopsy results and review of the literature are presented.
Conclusion:
Our case represents the seventh published case of hepatoblastoma in a patient with trisomy 18. All of the seven published cases were women, possibly due to the high preponderance of females among the children with Edward's syndrome and longer survival of females with trisomy 18 compared to males. Since both trisomy 18 and hepatoblastoma are rare conditions, the probability that a child with trisomy 18 will independently develop a hepatoblastoma is very low. Therefore, we believe that the existence of these cases in children with trisomy 18 indicates a significant association. It can be assumed that trisomy 18 potentiates the development of hepatoblastoma. Careful clinical and post-mortem studies are needed to recognize the real frequency of hepatoblastoma in children with trisomy 18, who might die from different causes with unrecognizable hepatoblastoma.
