Abstract:
Objective To analyze genetic predisposition to hepatoblastoma, to provide clinical genetic counseling, and to encourage early detection, early diagnosis, and early treatment.
Methods A retrospective analysis was performed based on the clinical records of three hepatoblastoma cases among twins from June 2005 to November 2011. The analysis consisted of biochemical data, images, therapeutic schedules, surial, family history, and analysis of the literature related to genetic factors.
Results Only eight articles have been published on hepatoblastoma among siblings since 1969 when Fraumeni first reported hepatoblastoma in infant sisters. Five groups of children in the literature had familial histories of tumors (mostly colon cancer) and familial colon polyps syndrome, including three groups with abnormal gene change. In this article, three cases of hepatoblastoma in twins were reported. The tumor only affected one of the twins that had no family history of the disease. The present report included one case of premature infants and two patients who underwent a surgical operation combined with chemotherapy. They achieved complete remission, but one died shortly after the surgical operation because of hemorrhagic shock.
Conclusion Hepatoblastoma is a rare malignant tumor in children associated with colon cancer and familial colon polyp syndrome. The disease has a genetic predisposition. Therefore, clinical doctors should help family members understanding the disease, facilitate preventive care, and strive for the early detection, early diagnosis, and treatment.