Hepatoblastoma in molecularly defined, congenital diseases

Gunther Nussbaumer; Martin Benesch

doi:10.1002/ajmg.a.62767

Hepatoblastoma in molecularly defined, congenital diseases

Am J Med Genet A. 2022 Sep;188(9):2527-2535. doi: 10.1002/ajmg.a.62767. Epub 2022 Apr 28.

Authors

Gunther Nussbaumer¹, Martin Benesch¹

Affiliation

¹ Division of Pediatric Hematology/Oncology, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.

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.

Keywords: cancer predisposition; congenital diseases; hepatoblastoma; screening; surveillance.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Beckwith-Wiedemann Syndrome* / diagnosis
Beckwith-Wiedemann Syndrome* / epidemiology
Beckwith-Wiedemann Syndrome* / genetics
Child
Genetic Diseases, X-Linked* / genetics
Gigantism* / genetics
Hepatoblastoma* / diagnosis
Hepatoblastoma* / epidemiology
Hepatoblastoma* / genetics
Humans
Liver Neoplasms* / complications
Liver Neoplasms* / diagnosis
Liver Neoplasms* / genetics