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Multiple hepatoblastomas associated with trisomy 18 in a 3-year-old girl
M Teraguchi1, S Nogi, Y Ikemoto
1Department of Paediatrics, Kansai Medical University, Osaka, Japan.
Insights
A rare case of full trisomy 18 (Edwards syndrome) in an infant was linked to multiple hepatoblastomas, a type of liver cancer. The child showed no recurrence of the tumors at age three.
Area of Science:
- Genetics
- Pediatric Oncology
- Developmental Biology
Background:
- Full trisomy 18 (Edwards syndrome) is a rare chromosomal disorder associated with significant congenital anomalies.
- Hepatoblastoma is the most common pediatric liver cancer, with a bimodal peak incidence in infancy and early childhood.
Observation:
- A patient with full trisomy 18 presented with congenital heart defects (ventricular septal defect and patent ductus arteriosus) requiring surgical repair.
- Following cardiac surgery, the patient developed an abdominal mass and elevated alpha-fetoprotein, indicative of hepatoblastoma.
Findings:
- Histopathological examination confirmed fetal-type hepatoblastoma in two separate instances.
- Karyotype analysis of both peripheral blood and tumor cells revealed 47,XX,+18, confirming full trisomy 18.
- The patient achieved remission without specific oncological therapy.
Implications:
- This case highlights a rare association between full trisomy 18 and the development of multiple hepatoblastomas.
- Further research may elucidate the potential genetic or developmental pathways linking trisomy 18 and hepatoblastoma.
Abstract:
A very rare case of full trisomy 18 associated with multiple hepatoblastomas is reported. The patient also had ventricular septal defect and patent ductus arteriosus, which were repaired at 6 months of age. After the cardiac surgery, she was noted to have an abdominal mass and an elevated serum alpha-fetoprotein level. A partial hepatic lobectomy was performed at 7 months of age, and the resected tumor was diagnosed as a fetal-type hepatoblastoma. At 2 years and 4 months of age, a chest radiography disclosed an elevated left diaphragm, and abdominal ultrasonography demonstrated a tumor in the left hepatic lobe. The resected tumor was also diagnosed as a fetal-type hepatoblastoma. Chromosomal analysis demonstrated that the karyotypes of peripheral blood and hepatic tumor cell obtained on two occasions were both 47,XX, +18. She has no evidence of recurrence at 3 years of age without specific therapy.