Premium
Hepatoblastoma in molecularly defined, congenital diseases
Author(s) -
Nussbaumer Gunther,
Benesch Martin
Publication year - 2022
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62767
Subject(s) - hepatoblastoma , incidence (geometry) , medicine , beckwith–wiedemann syndrome , familial adenomatous polyposis , pediatrics , abdominal ultrasound , colorectal cancer , oncology , cancer , genetics , biology , gene , gene expression , optics , dna methylation , physics
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.