Alpha-fetoprotein (AFP) levels are increased in >95% of patients with hepatoblastoma. These levels have to be interpreted carefully in infants as these levels typically are elevated in the first 6-12 months of life.
For patients with Beckwith-Wiedeman Spectrum (BWS), the relative risk of hepatoblastoma has been estimated to be 2280 times greater than the general population. In addition, in patients with BWS, AFP levels are known to be elevated compared to the general population in the absence of hepatoblastoma as well.
A recent study (KA Duffy et al. J Pediatr 2019; 212: 195-200) obtained 1372 AFP levels from 147 patients to establish normative values.
Table 2 -will be a useful reference. The authors found that AFP values were significantly higher in premature infants with BWS compared to full term and gradually approached normal levels around 12 months of life.
Some example AFP (95% CI) values from the entire cohort:
- 1 week 5364 (3554-8095)
- 4 weeks 3134 (2136-4597)
- 12 weeks 849 (613-1176)
- 6 months 134 (102-177)
- 12 months 13.8 (11.1-17.3)
My take: This article will be very useful when monitoring for the risk of hepatoblastoma in patients with BWS