The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.
Beckwith-Wiedemann syndrome (BWS) is one of the most common cancer predisposition disorders. As a result, BWS patients receive tumor screening as part of their clinical management. Until recently, this screening has been employed uniformly across all genetic and epigenetic causes of BWS, including the utilization of ultrasonography to detect abdominal tumors and alpha-fetoprotein (AFP) to detect hepatoblastoma. The advancements in our understanding of the genetics and epigenetics leading to BWS has evolved over time, and has led to the development of genotype/phenotype correlations. As tumor risk appears to correlate with genetic and epigenetic causes of BWS, several groups have proposed alterations to tumor screening protocols based on the etiology of BWS, with the elimination of AFP as a screening measure and the elimination of all screening measures in BWS patients with loss of methylation at the KCNQ1OT1:TSS-DMR 2 (IC2). There are many challenges to this suggestion, as IC2 patients may have additional factors that contribute to risk of hepatoblastoma including fetal growth patterns, relationship with assisted reproductive technologies, and the regulation of the IC2 locus. © 2017 Wiley Periodicals, Inc.
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kelly A
KA
Duffy
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Matthew A
MA
Deardorff
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.|Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Jennifer M
JM
Kalish
D001506:Beckwith-Wiedemann Syndrome / Q000097:blood* / Q000150:complications* / Q000235:genetics; D014408:Biomarkers, Tumor; D019175:DNA Methylation; D055088:Early Detection of Cancer; D018197:Hepatoblastoma / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D008113:Liver Neoplasms / Q000175:diagnosis* / Q000209:etiology*; D008403:Mass Screening; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D014463:Ultrasonography; D000509:alpha-Fetoproteins
D014408:Biomarkers, Tumor; C485621:KCNQ1OT1 long non-coding RNA, human; D024642:Potassium Channels, Voltage-Gated; D000509:alpha-Fetoproteins
Beckwith-Wiedemann syndrome; alpha-fetoprotein; hepatoblastoma; tumor screening