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  • Title: Hepatoblastoma in molecularly defined, congenital diseases.
    Author: Nussbaumer G, Benesch M.
    Journal: Am J Med Genet A; 2022 Sep; 188(9):2527-2535. PubMed ID: 35478319.
    Abstract:
    Beckwith-Wiedemann spectrum, Simpson-Golabi-Behmel syndrome, familial adenomatous polyposis and trisomy 18 are the most common congenital conditions associated with an increased incidence of hepatoblastoma (HB). In patients with these genetic disorders, screening protocols for HB are proposed that include periodic abdominal ultrasound and measurement of alpha-fetoprotein levels. Surveillance in these children may contribute to the early detection of HB and possibly improve their chances of overall survival. Therefore, physicians must be aware of the high HB incidence in children with certain predisposing genetic diseases.
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