Multiple hepatoblastomas associated with trisomy 18 in a 3-year-old girl.
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.
Teraguchi
M
M
Department of Paediatrics, Kansai Medical University, Osaka, Japan.
Nogi
S
S
Ikemoto
Y
Y
Ogino
H
H
Kohdera
U
U
Sakaida
N
N
Okamura
A
A
Hamada
Y
Y
Kobayashi
Y
Y
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18; D005260:Female; D018197:Hepatoblastoma / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008113:Liver Neoplasms / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D014134:Tracheal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D014314:Trisomy